BLY-302 Ch. 6 & Ch. 19:

Red-green color blindness is an X‑linked recessive trait. Heterozygous females have normal color vision but are carriers of the allele for red-green color blindness. Based on the information presented in the pedigree, select all of the females that are known carriers of red-green color blindness. [Select all that apply.] - 2 - 5 - 10 - 8 - 24

- 2 - 10 - 24

Which of the following BEST describes knockout mice? A. They have a gene of interest that has been fully disabled. B. They have lower expression levels of a gene of interest. C. They have higher expression levels of a gene of interest. D. They have a point mutation in the gene of interest. E. They have a gene removed, which results in lowered fertility.

A. They have a gene of interest that has been fully disabled.

_____ are used whenever DNA fragments must be cut or joined. A. Polymerases B. Helicases C. Engineered nucleases D. Restriction enzymes

D. Restriction enzymes

_____ are used to study the inheritance of traits in humans. Autosomal dominant traits Pedigrees Computer programs Probands

Pedigrees

_____ genetic diagnosis combined with in vitro fertilization can allow couples who are at risk of having a child with a genetic defect to avoid producing a child who has the disorder. Proband Newborn Fetal cell Preimplantation

Preimplantation

When can you see an autosomal dominant trait skip generations? When one person with a dominant trait has inherited the allele from at least one parent. When affected children are born to unaffected parents who are carriers of the gene for the trait. When a woman is heterozygous, approximately half of her sons will be affected and half of her daughters will be unaffected carriers. When a new mutation arises or the trait has incomplete penetrance.

When a new mutation arises or the trait has incomplete penetrance.

A rare, _____ trait is more likely to appear in a pedigree when two people who are closely related mate. recessive mitochondrial dominant Y-linked

recessive

X‑linked, recessive diseases, such as hemophilia, are extremely rare in the population. However, many women are carriers and show no sign of the disease. The pedigree illustrates the inheritance of an X‑linked, recessive disease. Determine whether the unknown individuals are affected by the disease, unaffected by the disease, or carriers of the X‑linked recessive allele. Unaffected individuals are not carriers of the X‑linked recessive allele. Answer bank: - carrier - affected - unaffected

*see image* top left [I]: - carrier bottom left [III]: - carrier top right [III]: - affected bottom right [IV]: - carrier

Huntington's disease, which causes degeneration of neurons, runs in Maria's family. Huntington's is a heritable, autosomal dominant genetic disease. In an autosomal dominant disease, only one abnormal allele is required to cause the disease in offspring. However, it is possible that not all offspring will receive the abnormal allele from an affected heterozygous parent. Family members that have the disease include Maria's paternal grandmother and Maria's paternal uncles. Maria's paternal grandfather does not have the disease. Because symptoms of Huntington's disease do not appear until later in life, genetic testing is necessary to determine whether a younger individual possesses the allele for the disease. These tests determined that Maria's father does not carry the allele for Huntington's disease. Maria's maternal uncle suggested that Maria create a pedigree to track the disease in her family. Use the symbols provided to complete the pedigree. Each symbol may be used more than once.

*see pedigree image*

Cystic fibrosis is an autosomal recessive disorder that runs in Ann's family. Consider the figure of a pedigree of the known occurrences of cystic fibrosis in her family. Filled (red) circles represent affected females. Filled (red) squares represent affected males. Unfilled (tan) circles, such as Ann's circle, represent symptomless females. Unfilled (tan) squares represent symptomless males. Which individuals are symptomless carriers? - Ann's mother - Ann's father's sister - Ann's sister - Ann - Ann's grandmother

- Ann's sister - Ann - Ann's grandmother

Match each vector type to the DNA fragment size that vector may clone. - 4 kb? - 20 kb? - 35 kb? - 100 kb? Answer bank: - cosmid - bacteriophage - bacterial artificial chromosome (BAC) - plasmid

4 kb: - plasmid 20 kb: - bacteriophage 35 kb: - cosmid 100 kb: - bacterial artificial chromosome (BAC)

Which of the following would be MOST appropriate for cloning a gene that is 300 kb in size? Hint: this is the largest cloning option A. bacterial artificial chromosome (BAC clone) B. plasmid C. bacteriophage D. cosmid E. Standard PCR

A. bacterial artificial chromosome (BAC clone)

In pedigree analysis, the proband is: A. the individual having the trait or disorder from whom the pedigree is initiated. B. the medical geneticist who analyzes the pedigree to find the mode of inheritance for the disorder. C. the parents of the first child in the family to show the trait or disorder. D. one of the grandparents or great grandparents who are in the first generation of the pedigree. E. the most common software package that geneticists use to analyze pedigrees.

A. the individual having the trait or disorder from whom the pedigree is initiated.

Which components make up the CRISPR-Cas genome editing? A. tracrRNA, crRNA, and Cas9 B. tracrRNA and crRNA C. protospacer and tracrRNA D. crRNA and Cas9

A. tracrRNA, crRNA, and Cas9

What is the purpose of primers in a PCR reaction? A. DNA polymerase requires an existing 3'‑phosphate group to which it can add free nucleotides. B. DNA polymerase requires an existing 3'‑hydroxyl group to which it can add free nucleotides. C. none of the choices D. DNA polymerase requires an existing 5'‑hydroxyl group to which it can add free nucleotides. E. DNA polymerase requires the template DNA strand is coated with methyl groups.

B. DNA polymerase requires an existing 3'‑hydroxyl group to which it can add free nucleotides.

In what way are humans useful for genetic study? A. Specific crosses are easily carried out. B. Familial records with phenotypic data are often available. C. Generation times are short. D. Brood sizes are large. E. We don't know much about human genetics

B. Familial records with phenotypic data are often available.

Which of the options is NOT a reasonable concern about CRISPR-Cas9's ability to edit human cells? A. Off-target cutting could lead to cancer. B. Genetically altered plants could make it into the human food chain. C. Edited genes could affect the future gene pool. D. Any edits made in germ-line cells will be passed onto the offspring.

B. Genetically altered plants could make it into the human food chain.

Which of the following is NOT a potential benefit of using transgenic plants? A. They can reduce the use of harmful chemical pesticides and thus provide an ecological benefit. B. They can generate restriction enzyme sites on a foreign gene of interest to be cloned. C. They often increase yields, providing more food per acre and reducing the amount of land needed for agricultural use. D. They can allow crops to be grown on land previously unavailable for productive agricultural use. E. They can be used to express large quantities of specific biological products more cheaply and quickly than by expression in animal systems.

B. They can generate restriction enzyme sites on a foreign gene of interest to be cloned.

What is the MOST likely mode of inheritance in the pedigree below? A. autosomal recessive B. autosomal dominant C. X-linked recessive D. X-linked dominant E. Y-linked

B. autosomal dominant

A student carries out PCR using the following steps: Step 1: 94 ^C for 1 minute Step 2: 60^C for 30 seconds Step 3: 72^C for 30 seconds Which of the following lists the CORRECT terms for these three steps? A. denaturation of the double-stranded template, extension of the new DNA molecules, primer annealing B. denaturation of the double-stranded template, primer annealing, extension of the new DNA molecules C. denaturation of the double-stranded template, extension of the new DNA molecules, hybridization of the template D. degradation of the template, primer annealing, extension of the new DNA molecules E. hybridization of the single-stranded templates, primer annealing, extension of the new DNA molecules

B. denaturation of the double-stranded template, primer annealing, extension of the new DNA molecules

If the phenotype followed in Pedigree 3 is X-linked recessive, then what is the genotype of II-2? Assume no new mutations and complete penetrance. A. homozygous dominant B. heterozygous C. homozygous recessive D. hemizygous dominant E. hemizygous recessive

B. heterozygous

What is a common use of small interfering RNAs (siRNAs)? A. cloning a gene fragment in a plasmid B. inhibiting expression of a gene C. attaching to specific DNA fragments per PCR D. creating a knockout mouse

B. inhibiting expression of a gene

Which lane has the shortest DNA fragments? A. 1 B. 2 C. 3 D. 4 E. 5

C. 3

The pedigree below shows the segregation of an autosomal dominant trait. If IV-1 marries IV-5, what is the probability that their first child will be affected? Assume that the homozygous mutant genotype is viable and has the same phenotype as the heterozygote. A. 1/4 B. 1/2 C. 3/4 D. 3/8 E. 1/8

C. 3/4

Which statement is INCORRECT concerning an X-linked recessive trait in humans? A. An affected man got his Y chromosome from his father. B. All the sons of an affected woman will be expected to be affected. C. An affected woman always has an affected mother. D. An affected man has a mother who carries the recessive allele. E. A phenotypically normal woman whose father was affected is heterozygous for the condition.

C. An affected woman always has an affected mother.

What is the purpose of Taq polymerase in a PCR reaction? A. DNA denaturation B. primer annealing C. DNA synthesis D. heating of the reaction E. heating of the reaction and DNA denaturation

C. DNA synthesis

In an effort to identify the influence of genetic factors on both Type 1 diabetes and Type II diabetes, researchers calculated concordance rates for monozygotic twins. Concordance rates of 30-50% have been found for Type I diabetes with concordance rates of 80% for Type II. For both kinds of diabetes, dizygotic concordance rates were about 15%. What does this information suggest concerning the relative effect of genetic and environmental factors for each type of diabetes? A. Genetic factors have little or no role in the occurrence of Type I diabetes. B. Type II diabetes is primarily determined by non-genetic factors. C. Genetic influences exert a larger role in Type II diabetes than in Type I diabetes. D. Type II diabetes appears to be caused by a single unidentified gene. E. Environmental factors have no role in the occurrence of either type of diabetes.

C. Genetic influences exert a larger role in Type II diabetes than in Type I diabetes.

Which of the following statements does NOT describe a challenge of working at the molecular level? A. Cells contain thousands of genes. B. Individual genes cannot be seen. C. It is not possible to isolate DNA in a stable form. D. A genome can consist of billions of base pairs. E. No physical features mark the beginning or end of a gene.

C. It is not possible to isolate DNA in a stable form.

Which of the following is NOT a bacterial cloning vector? A. plasmid B. bacteriophage C. Rhizobium radiobacter D. bacterial artificial chromosome E. cosmid

C. Rhizobium radiobacter

Most pedigrees showing a hypothetical human trait show the following characteristics: - If a phenotypically normal woman with an affected father has children with an unaffected man, half of the sons and none of the daughters are affected. - Affected females always have an affected father and an affected maternal grandfather. - The trait is never passed from father to son. What is the MOST likely mode of inheritance for this disorder? A. autosomal recessive B. autosomal dominant C. X-linked recessive D. X-linked dominant E. Y-linked

C. X-linked recessive

During gel electrophoresis, large DNA fragments will ________ small DNA fragments. A. migrate more rapidly than B. migrate at the same speed as C. migrate more slowly than D. cause degradation of E. separate into

C. migrate more slowly than

Which is a next-generation sequencing technique? A. Sanger dideoxy sequencing B. polymerase chain reaction (PCR) C. pyrosequencing D. Maxam and Gilbert sequencing

C. pyrosequencing

Short DNA sequences that are repeated in tandem and that are commonly used in DNA fingerprinting are called _____. A. RFLPs B. dNTPs C. short tandem repeats (STR) D. markers

C. short tandem repeats (STR)

_____ is the percentage of twin pairs that are concordant for a trait. Concordance Penetrance Expressivity Pedigree

Concordance

The ability to roll the tongue is caused by a dominant allele. A woman is a "roller," but one of her parents is not. The woman is expecting a child with a man who is a "nonroller." What is the probability that their first child will be a "roller"? A. 1/4 B. 0 C. 3/4 D. 1/2 E. 1

D. 1/2

What is the purpose of the hot (usually about 95 °C) portion of the PCR temperature cycles? A. It allows Taq polymerase to become active. B. It melts the entire reaction. C. It allows primers to anneal to the template DNA. D. It separates or denatures the template strands of DNA. E. This is the temperature required for Taq polymerase to polymerize DNA.

D. It separates or denatures the template strands of DNA.

Which is not found in a PCR reaction? A. primers B. All are required for PCR. C. free nucleotides D. helicase E. Taq polymerase

D. helicase

Many copies of a recombinant plasmid are produced by _________. A. the host cell copying the plasmid and infecting other bacterial cells with it B. insertion of the plasmid into the host bacterial cell's genome C. After cloning, there is only one copy of the plasmid. D. replication of the plasmid DNA, using the host enzymes and cell division of the host cell E. replication of the the plasmid, using its own DNA replication genes to make copies of itself

D. replication of the plasmid DNA, using the host enzymes and cell division of the host cell

How many females are in this pedigree? A. 10 B. 22 C. 13 D. 18 E. 14

E. 14

Which of the following is a current concern of genetic testing? A. testing for a disease for which there is no cure or treatment B. the confidentiality of the tests C. the accuracy of the tests D. false negative results E. All of these options.

E. All of these options.

The amount of target DNA: A. quadruples after each cycle of PCR. B. stays the same through all of the cycles of PCR. C. is multiplied by 1000 after the first cycle of PCR. D. triples after each cycle of PCR. E. doubles after each cycle of PCR.

E. doubles after each cycle of PCR.

The purpose of the polymerase chain reaction (PCR) is to: A. get the sequence of a piece of chromosomal DNA. B. synthesize DNA polymerase. C. synthesize new specific primers. D. synthesize specific pieces of mRNA. E. make many copies of a single DNA segment.

E. make many copies of a single DNA segment.

The concordance for ABO blood type in monozygotic twins is 100% and dizygotic twins is 65%. What does this suggest? Genetic factors are somewhat important in determining blood type. Environmental factors are solely responsible for determining blood type. Genetic factors influence blood types, and environmental factors also play a role. Genes determine the differences in ABO blood types.

Genes determine the differences in ABO blood types.

What is indicated by the fact that the concordance for smoking is lower in dizygotic twins than in monozygotic twins, and the fact that monozygotic twins show a concordance less than 100%? Environmental factors do not play a role in the incidence of smoking. Genetic factors influence the tendency to smoke, and environmental factors also play a role. Environmental factors are solely responsible for the incidence of smoking. Genetic factors are solely responsible for the tendency to smoke.

Genetic factors influence the tendency to smoke, and environmental factors also play a role.

For a medical disorder, the concordance rate for monozygotic twins is about 55%, while it is 6% for dizygotic twins. What is the most reasonable conclusion that can be made from the data provided? It is mainly caused by genetic factors with almost no environmental input. It is mainly caused by environmental factors with almost no genetic basis. It is inherited as a simple autosomal dominant trait. It is caused by significant environmental factors and genetic factors.

It is caused by significant environmental factors and genetic factors.

What can be concluded about a trait that shows a concordance of 100% in monozygotic twins and 50% in dizygotic twins? It is caused exclusively or almost exclusively by genetic factors. About 25% of the trait basis is environmental, while 75% of the basis is genetic. It is caused exclusively or almost exclusively by environmental factors. About 25% of the trait basis is genetic, while 75% of the basis is environmental.

It is caused exclusively or almost exclusively by genetic factors.

Match each statement to the genetic screening procedure it describes. - Newborn screening? - Heterozygote screening? - Prenatal diagnosis? - Presymptomatic testing? Answer bank: - identifies genetic disorders in a developing fetus - identifies recessive disease carriers in a population - identifies treatable genetic disorders soon after birth - identifies a genetic disease in a healthy, but high-risk, patient

Newborn screening: - identifies treatable genetic disorders soon after birth Heterozygote screening: - identifies recessive disease carriers in a population Prenatal diagnosis: - identifies genetic disorders in a developing fetus Presymptomatic testing: - identifies a genetic disease in a healthy, but high-risk, patient

Ann's family has a history of cystic fibrosis, a recessive genetic disease. In the pedigree, family members who are afflicted with the disease are shown in red. Members who are unafflicted may or may not be carriers. Which of the given family members can be identified definitively as unafflicted carriers of cystic fibrosis? Unafflicted carriers? Answer bank: - grandfather - male cousin (2) - aunt's husband - uncle - father

Unafflicted carriers: - grandfather - male cousin (2) - aunt's husband

A pedigree of a family with a rare genetic disorder is shown. Use the pedigree to determine the mode of inheritance of the disorder. autosomal recessive sex‑linked recessive autosomal dominant sex‑linked dominant

autosomal dominant

What is used by researchers for examining human genetics and evolution? pedigrees genetic counseling maternal blood screening tests genealogies and ancestry databases

genealogies and ancestry databases

The pedigree shows the segregation of a rare autosomal recessive trait that displays full penetrance. Assuming that V-2 marries a normal female and no new mutations are involved, what is the probability that their first child will be affected with the trait? one-half three-fourths one-fourth zero

zero

Many genetic studies, particularly those of recessive traits, have focused on small isolated human populations, such as those on islands. Which are major advantages that isolated populations might provide for the study of recessive traits? [Select all that apply.] - Geneticists are more likely to be able to control mating choices in small populations. - Small populations likely will experience a high mutation rate and thus produce more genetic variation for study. - Autosomal dominant traits will be more likely to be found in such populations. - Inbreeding, which is more common in small populations, will tend to increase the frequency of recessive phenotypes. - Some recessive traits that are rare in most large populations may be relatively common in some small populations.

- Inbreeding, which is more common in small populations, will tend to increase the frequency of recessive phenotypes. - Some recessive traits that are rare in most large populations may be relatively common in some small populations.

Genetic tests have greatly enhanced our understanding of complex human diseases. However, there are still some limitations. Select the caveats of current genetic tests when analyzing common complex human diseases. [Select all that apply.] - provide only a diagnosis and not a cure - cannot account for potential environmental effects - can only identify most common variants - cannot locate a common genetic mutation in an individual - cannot detect specific genetic defects in individuals

- can only identify most common variants - cannot account for potential environmental effects - provide only a diagnosis and not a cure

Which methods can identify a genetic disorder in a fetus? [Select all that apply.] - take a blood sample from the father - perform PCR on the DNA of a sibling - take a blood sample from the placenta - perform an ultrasound - take a sample of amniotic fluid

- take a blood sample from the placenta - perform an ultrasound - take a sample of amniotic fluid

Albinism is a recessive trait that occurs when an animal is unable to produce certain pigments. The picture shows an albino gray squirrel. The squirrel pictured is the starred female in the third generation of the pedigree. 1. What is the genotype of this squirrel? A. impossible to determine B. gg C. Gg D. GG 2. Based on the pedigree, what should be the genotype of squirrel C? A. impossible to determine B. gg C. GG D. Gg

1. B. gg 2. A. impossible to determine

1. Identify examples of reverse genetics. [Select all that apply.] - mutation from wild‑type allele to mutant allele - RNA interference - two‑hybrid test - gene knockout using site‑directed mutagenesis - mutation from mutant allele to wild‑type allele 2. Which statement represents the definition of a reversion (reverse mutation)? A. RNA interference B. site‑directed mutagenesis C. mutation from mutant allele to wild‑type allele D. two‑hybrid test E. mutation from wild‑type allele to mutant allele

1. examples of reverse genetics: - RNA interference - gene knockout using site‑directed mutagenesis 2. C. mutation from mutant allele to wild‑type allele

You discovered a mouse gene with an unknown function. You do not know the location or sequence of this gene in the mice genome, but a similar gene has been isolated and sequenced in yeast. How might you determine whether this gene is essential for development in mice? A. Create a targeting vector using a cloned copy of the gene to develop a knockout mouse. If the gene is essential for development, no offspring homozygous for knockout will be born. B. Insert a cloned copy of this gene into the yeast genome. If yeast have the same phenotype as mice, the gene must be essential for development in mice. C. Engineer a transgenic mouse that overexpresses this gene. If the gene is essential for development, no offspring will be born from the transgenic mice. D. Create a targeting vector using a cloned copy of the gene to develop a knockout mouse. If the gene is essential for development, no offspring heterozygous for the knockout will be born. E. Transform a yeast strain deficient for this gene with DNA fragments from a mouse genomic library to determine if a mouse clone can complement the yeast defect.

A. Create a targeting vector using a cloned copy of the gene to develop a knockout mouse. If the gene is essential for development, no offspring homozygous for knockout will be born.

A collection of clones containing all the DNA fragments from one source is called a(n) _____. A. DNA library B. cDNA library C. genomic library D. expression library

A. DNA library

Refer to Table 19.1. Which restriction enzyme would recognize and cut this section of DNA? 5'-AGTCAGCGCTAG-3' 3'-TCAGTCGCGATC-5' This is a table illustrating the characteristics of common type II restriction enzymes used in recombinant DNA technology.' Based on the type of enzyme, the recombinants produced when the enzyme introduced can vary from 3 - 6 base pair restriction fragments. For enzyme BamHI, produced by Bacillus amyloliquedfaciens, it cleaves a recognition site of 5'-GGATCC'3' in between the first guanine and the second guanine and vice versa from the 3' to 5' direction. This cleavage leads to 5'-GATCC-3'. This enzyme produces cohesive fragment ends. For enzyme CofI, produced by Clostridium formicoaceticum, the enzyme recognizes 5'-GCGC-3' and 3'-CGCG-5' as recognition sites. It cleaves after the second guanine from the 5'-to-3' direction and vice versa. This cleavage leads to a GCG fragment from the 5'-to-3' direction. This produces cohesive fragment ends. For EcoRI, produced by Escherichia coli, the enzyme recognizes 5'-GAATTC-3' and 3'-CTTAAG-5' as recognition sites. It cleaves after the first guanine in both the 5'-to-3' direction and the 3'-to-5' direction. This cleavage leads to AATTC produced from the 5'-to-3' direction. It also leads to cohesive fragment ends to be produced. For EcoRII, produced by Escherichia coli, the enzyme recognizes 5'-CCAGG-3' and 3'-GGTCC-5' as recognition sites. It cleaves before the initial cytosine on the 5' end. This cleaving leads to cohesive fragment ends being produced. For enzyme HaeIII, produced by Haemophilus aegyptius, recognizes 5'-GGCC-3' and 3'-CGG-5' as recognition sites. It cleaves after the second guanine in both the 5'-to-3' direction and the 3'-to-5' direction. This produces two fragments: 5'-GG-3' and 3'-CC-5'. The fragments also produce blunt ends. For enzyme HindIII, produced by Haemophilus influenzae, recognizes 5'-AAGCTT-3' and 3'TTCGAA-5' as recognition sites. It cleaves after the initial adenosine from the 5' direction producing AGCTT in the 5'-to-3' direction. It also produces cohesive fragment ends. For PvuII, produced by Proteus vulgaris, the enzyme recognizes 5'-CAGCTG-3' as a recognition site. It cleaves after the initial guanine from the 5'-to-3' direction producing 5'-CAG-3' and 5'-CTG-3'. This leads to fragments producing blunt ends. A. CofI B. EcoRI C. PvuII D. HindIII

A. CofI

The process by which a recombinant plasmid is introduced into a host bacterial cell is: A. transformation. B. conjugation. C. transfection. D. DNA cloning. E. colony infection.

A. transformation.

The pedigree shows the segregation of an autosomal recessive trait. Assuming that the mutant allele is a and the normal allele is A, what is the genotype of II-4? (Assume that all individuals from outside the family are homozygous for the normal allele.) XAXa aa AA Aa

Aa

Why is it important that a cloning vector have a unique site for each restriction enzyme? A. Each restriction enzyme will recognize and cut only one site. B. The presence of several restriction sites will generate multiple DNA fragments that cannot be easily reassembled. C. The unique restriction site allows that vector to be replicated within the cell. D. A unique restriction site allows any cell with the vector to be selected or identified.

B. The presence of several restriction sites will generate multiple DNA fragments that cannot be easily reassembled.

An advantage of using an adenovirus as a gene vector in gene therapy is that: A. adenoviruses insert randomly into the genome. B. adenoviruses transfer DNA to nondividing cells. C. adenoviruses stimulate a strong immune reaction. D. adenoviruses do not cause an immune reaction.

B. adenoviruses transfer DNA to nondividing cells.

A plasmid vector generally contains which item or items? A. a cloning site B. an antibiotic resistance gene, a cloning site, and a replication origin C. an antibiotic resistance gene D. a replication origin E. an antibiotic resistance gene and a cloning site

B. an antibiotic resistance gene, a cloning site, and a replication origin

What is the purpose of reverse transcriptase in the creation of a cDNA library? A. It captures mRNA from total cellular RNA. B. It seals the sugar-phosphate backbone. C. It synthesizes DNA from mRNA. D. It digests the RNA strand.

C. It synthesizes DNA from mRNA.

Jose is assessing the utility of gene therapy in regard to insulin use in patients with diabetes. He plans to isolate cells of the pancreas and induce them to release insulin, measuring the level of response when exposed to glucose. This process of experimentation is referred to as what? A. gene amplification B. RT-PCR C. qRT-PCR D. CRISPR-Cas

C. qRT-PCR

A scientist studying vertebrate development performs a chemical mutagenesis screen in zebrafish. The mutagenesis screen identified 200 genes involved in development. How does a mutagenesis screen help scientists understand vertebrate development? A. Scientists can determine how closely genes are linked and allows the generation of genetic linkage maps. B. Scientists can identify the patterns of inheritance of genes involved in vertebrate development by studying mutant gene transmission. C. Scientists can identify frequently inherited polymorphic alleles involved in vertebrate development. D. Scientists can identify the normal role of a gene by understanding how a mutant gene alters vertebrate development.

D. Scientists can identify the normal role of a gene by understanding how a mutant gene alters vertebrate development.

_____ can be used to produce mutations at specific sites in DNA. A. Reverse genetics B. Site-directed mutagenesis C. Forward genetics D. Targeted mutagenesis

D. Targeted mutagenesis

Restriction enzymes are used during DNA cloning to: A. destroy vector or insert DNA that has not formed a recombinant plasmid. B. allow for selective growth of bacteria. C. insert a plasmid into a bacterial cell. D. cut DNA and produce sticky ends on the vector and insert DNA. E. give the bacterial cell antibiotic resistance.

D. cut DNA and produce sticky ends on the vector and insert DNA.

All are differences between a dideoxyribonucleoside triphosphate (ddNTP) and a deoxyribonucleoside triphosphate (dNTP) that make ddNTPs useful in a sequencing reaction, EXCEPT: A. ddNTPs have a single hydrogen on the 3'-carbon atom. B. dNTPs have a 3'-OH group. C. ddNTPs terminate DNA synthesis. D. dNTPs have a base attached to their five-carbon ring.

D. dNTPs have a base attached to their five-carbon ring.

The vehicle that carries a piece of foreign DNA to be cloned into a bacterial cell is called: A. E. coli. B. a fragment. C. an insert. D. a restriction enzyme. E. a vector.

E. a vector.

Assume that there is a human chromosome abnormality that usually leads to a spontaneous abortion between 10 to 16 weeks after conception. Which of these statements concerning testing for this abnormality is true? It will be most often detected with presymptomatic testing. It will be found in a higher frequency with chorionic villus sampling than with amniocentesis. It will be found in a lower frequency with chorionic villus sampling than with amniocentesis. It will likely be found most often with newborn screening.

It will be found in a higher frequency with chorionic villus sampling than with amniocentesis.

Amniocentesis and chorionic villus sampling are prenatal procedures that detect congenital abnormalities. Classify each statement as a characteristic of amniocentesis, chorionic villus sampling, or both. - True for amniocentesis? - True for chorionic villus sampling? - True for both? Answer bank: - conducted as early as 10 weeks after conception - normally conducted about 16 weeks after conception - used to prepare a fetal karyotype - may increase the risk of fetal limb defects - requires cell cultures - uses placental tissue

True for amniocentesis: - requires cell cultures - normally conducted about 16 weeks after conception True for chorionic villus sampling: - uses placental tissue - may increase the risk of fetal limb defects - conducted as early as 10 weeks after conception True for both: - used to prepare a fetal karyotype

Electrophoresis gels are used to separate DNA fragments. Match the DNA fragment size, in base pairs (bp), to each band on the electrophoresis gel. A DNA ladder with known fragment sizes is visible in lane 1. The sizes of the most intense bands in the ladder are provided to the left. Electrode charge is indicated to the right of the gel. *fill-in diagram* Answer bank: - 10000 - 500 - 4750 - 1500 - 2250

[listed from top to bottom of diagram:] [top] - 4750 - 2250 - 500 [bottom]

PCR (polymerase chain reaction) is a commonly used method for the amplification of a short segments of DNA. The flow chart shown is a simplified illustration of the basic steps of PCR. Identify the steps of PCR in the image. Note: In reality, primers generally must be longer than the primers shown and the DNA being amplified is generally much longer. The process has been simplified. *fill-in diagram* Answer bank: - denature with heat - ___________ 3' A T T 5' - 5' G G A 3' _________ - add primers - 3' C C T C G T T A T T 5' - add DNA polymerase and deoxynucleotides - 5' G G A G C A A T A A 3'

[listed from top to bottom of diagram:] [top] - denature with heat - add primers - ___________ 3' A T T 5' - 5' G G A 3' _________ - add DNA polymerase and deoxynucleotides - 3' C C T C G T T A T T 5' - 5' G G A G C A A T A A 3' [bottom]

Identify each feature in the diagram which depicts the generation of a recombinant plasmid from plasmid and donor DNA. *fill-in diagram* Answer bank: - restriction enzyme - DNA ligase - restriction site - ligation - recombinant plasmid

[listed from top to bottom of diagram:] [top] - restriction enzyme - restriction site - DNA ligase - ligation - recombinant plasmid [bottom]

Genetic mosaicism is when an individual: inherits genetic information from two parents. inherits genetic information from only one parent. has cells with different genetic information in them. has the same genetic information in every cell.

has cells with different genetic information in them.

Which of these would be most useful in preventing the formation of a zygote or a very early embryo that has a genotype associated with a genetic disorder? presymptomatic testing heterozygote screening amniocentesis preimplantation genetic testing

heterozygote screening

Traditionally, genetic counselors have helped families to reach their own decisions about reproductive and medical choices by providing information as to what they would do themselves in a similar situation. the outcomes of pregnancies of other identified parents in the same city who were at the same risk for having a child with the same genetic disorder. nondirected counseling. funding so that treatment is available if parents decide to have a child with a serious genetic condition.

nondirected counseling.

Genetic counselors can recommend genetic tests and interpret the results of these tests for individuals. In which instances can a genetic counselor in the United States recommend a genetic test? [Select all of the statements that apply.] - An individual has a strong family history of cancer. - An individual seeks a test for a genetic disorder that involves many genes. - A pregnant woman's blood screening shows that her child may have a genetic disorder. - An individual seeks a test for single‑gene disorder, such as Huntington's disease. - The parents of an unborn child wish to alter the eye color of their fetus.

- An individual has a strong family history of cancer. - A pregnant woman's blood screening shows that her child may have a genetic disorder. - An individual seeks a test for single‑gene disorder, such as Huntington's disease.

Amniocentesis is a prenatal medical procedure conducted by extracting and analyzing fetal cells in the amniotic fluid, the fluid that surrounds the fetus. What information can be obtained about the developing fetus through amniocentesis? [Select all that apply.] - Rh incompatibility - structural defects - chromosomal abnormalities - environmental toxin‑induced defects

- Rh incompatibility - chromosomal abnormalities

Consider the pedigree of a family with a disorder of unknown inheritance. Note that individual 11 is known to have no affected alleles. Superscript a indicates the affected allele for sex-linked traits. What are the possible genotypes of individual 1? [Select all that apply.] - X^AX^A - Aa - aa - AA - X^aX^a - X^AX^a

- X^AX^A - X^AX^a

Which of the techniques are examples of biotechnology? [Select all that apply.] - using bacteria to convert milk to dairy products like butter, cheese, or yogurt - breeding different dog breeds for hunting or racing - using transgenic microbes to break down pollutants in waste management - using DNA fragments to harvest insulin for the treatment of diabetes

- using bacteria to convert milk to dairy products like butter, cheese, or yogurt - breeding different dog breeds for hunting or racing - using transgenic microbes to break down pollutants in waste management - using DNA fragments to harvest insulin for the treatment of diabetes

Polymerase chain reaction (PCR) is a technique used to amplify (copy) DNA. Suppose a single, linear molecule of double‑stranded DNA (dsDNA) is amplified by PCR. 1. After one PCR cycle, how many molecules of dsDNA will there be? - molecules of dsDNA after one cycle? 2. After three PCR cycles, how many molecules of dsDNA will there be? - molecules of dsDNA after three cycles? 3. After 30 PCR cycles (a typical number of cycles), how many molecules of dsDNA will there be? A. 900 B. ~1 billion C. 120 D. ~34 million E. 625 F. 60 Consider that a typical PCR does not start with a single molecule of template DNA, but rather something in the range of 25 nmol of template DNA. 4. What does this tell you about the potential of PCR to amplify DNA? A. PCR is an efficient technique with the potential to produce a large amount of DNA B. PCR is an inefficient technique with the potential to produce a small amount of DNA

1. molecules of dsDNA after one cycle: 2 2. molecules of dsDNA after three cycles: 8 3. B. ~1 billion 4. A. PCR is an efficient technique with the potential to produce a large amount of DNA

Which cellular process is most like the Sanger method of DNA sequencing? A. DNA replication B. DNA transcription C. DNA translation D. DNA degradation

A. DNA replication

_____ mice are genetically altered animals in which a normal gene has been fully disabled. A. Knockout B. Transgenic C. Resistant D. Recombinant

A. Knockout

Restriction enzyme I recognizes a 4 bp restriction site. Restriction enzyme II recognizes a 6 bp restriction site. On average, how does the number of restriction sites recognized by enzyme I compare to the number recognized by enzyme II? A. Restriction enzyme I will have more restriction sites than enzyme II. B. Restriction enzyme I will have fewer restriction sites than enzyme II. C. There is not enough information to determine the relative number of restriction sites for these enzymes. D. The number of restriction sites for enzyme I and enzyme II will be similar.

A. Restriction enzyme I will have more restriction sites than enzyme II.

Suppose concordance data were collected from a cohort study of twins to study the genetic contribution to the onset of type 1 diabetes, also called juvenile diabetes. Both monozygotic (identical) twins and dizygotic (fraternal) twins who grew up together in the same household were included. The concordance rate was found to be 82 % among monozygotic twin pairs and 11 % in dizygotic twin pairs. What general conclusion about type 1 diabetes can be drawn from these results? A. The heritability of type 1 diabetes is likely high, indicating that genetics plays a larger role in the development of type 1 diabetes than the environment. B. There is low penetrance of the type 1 diabetes phenotype. Therefore, genetic and environmental effects cannot be estimated. C. The environment plays a larger role in the development of type 1 diabetes than genetics, indicating that heritability is likely low. D. No results can be drawn because too many potential variables are present in the study to make a reliable conclusion about how twins develop type 1 diabetes.

A. The heritability of type 1 diabetes is likely high, indicating that genetics plays a larger role in the development of type 1 diabetes than the environment.

What is the main reason that geneticists devote so many resources to studying genetics in humans? A. They want to understand the many aspects of human health, physiology, and behavior that are influenced by genes. B. Very little of what has been learned about genetics in other animals actually applies to humans. C. The genetic systems of all other organisms are so poorly developed that useful genetic analysis can only be done with humans. D. They want to apply what has been learned about human genetics to other organisms. E. Detailed family records make it particularly easy to study genetics in humans compared with most other organisms.

A. They want to understand the many aspects of human health, physiology, and behavior that are influenced by genes.

Consider the list. - both sexes are usually affected, but often more females than males are affected - affected fathers will pass the trait onto all their daughters - affected mothers will pass the trait onto half of their sons and half of their daughters - does not skip generations Which of the inheritance patterns best fits the pedigree characteristics described in the list? A. X-linked dominant B. autosomal dominant C. X‑linked recessive D. autosomal recessive E. Y‑linked

A. X-linked dominant

Which best describes a cDNA library? A. consists of DNA sequences that are expressed B. consists of microsatellite DNA digested by restriction enzymes C. contains pieces of DNA from an organism's entire genome D. made from tRNA

A. consists of DNA sequences that are expressed

The pedigree shows the segregation of an autosomal recessive trait. Assume that the mutant allele is a and the normal allele is A; what is the genotype of III-4? Aa AA XAXXa aa

Aa

A man with a specific unusual genetic trait marries an unaffected woman. For each type of inheritance, place the pedigree that would result from the cross. Assume the trait is fully penetrant and rare. - Autosomal recessive? - Autosomal dominant? - X-linked recessive? - X-linked dominant? - Y-linked?

Autosomal recessive: - one orange square Autosomal dominant: - two orange squares, one orange circle X-linked recessive: - one orange square X-linked dominant: - one orange square, two orange circles Y-linked: - three orange squares

Based on the pedigree shown on the animation, which individuals give a clue on how to eliminate the Y‑linked trait? A. IV‑7 and IV‑8 B. III‑5; III‑6; III‑7; III‑8 C. II‑1 and II‑2 D. II‑6 and IV-9 E. II‑2 and II‑7

B. III‑5; III‑6; III‑7; III‑8

Screening for genomic and cDNA libraries have several steps. What is the correct order of the steps shown? I. Cells are disrupted and their DNA denatured. II. Excess probes are washed, revealing probe presence on the membrane. III. Cells from the colonies adhere to the membranous filter. IV. A membrane disc is laid on top of bacterial colonies. V. A labeled probe hybridizes with complementary DNA. A. III, IV, I, II, V B. IV, III, I, V, II C. III, IV, I, V, II D. IV, I, III, V, II

B. IV, III, I, V, II

The Taq polymerase enzyme that is stable at high temperatures without getting denatured is sourced from what organism? A. R. radiobacter B. T. aquaticus C. S. pyogenes D. E. coli

B. T. aquaticus

Consider the list. - affected offspring are usually born to unaffected parents - usually appears in both sexes with equal frequency - tends to skip a generation - appears more frequently among the children of consanguine (first cousin) marriages Which of the inheritance patterns best fits the pedigree characteristics described in the list? A. X‑linked dominant B. autosomal recessive C. X‑linked recessive D. Y‑linked E. autosomal dominant

B. autosomal recessive

Which of the options is NOT an application of CRISPR-Cas9? A. creating mouse models of human disease B. targeting specific RNA for degradation C. increasing crop yields D. treating infectious disease

B. targeting specific RNA for degradation

Which of these is the greatest concern that has been raised about genetic engineering of novel organisms? A. potential positive effects of releasing novel organisms into the environment B. the potential for ecological disruption C. lack of hybridization with native organisms D. positive effects of genetically engineered crops on biodiversity

B. the potential for ecological disruption

What is the purpose of recombinant DNA technology? A. to select for specific traits through specific mating or crosses B. to analyze, alter, and recombine DNA sequences from any number of sources C. to amplify specific fragments of DNA D. to sequence entire genomes

B. to analyze, alter, and recombine DNA sequences from any number of sources

For what purpose would one use a bacterial artificial chromosome? A. to replace a damaged chromosome in bacteria B. to clone a large DNA fragment (larger than 100,000 bp) C. to ensure transcription and translation of a cloned gene D. to clone a small DNA fragment (less than 10,000 bp) in a bacterial cell

B. to clone a large DNA fragment (larger than 100,000 bp)

Place the phrases by whether they describe bacterial artificial chromosomes (BACs), yeast artificial chromosomes (YACs), or both. - Bacterial artificial chromosomes (BACs)? - Yeast artificial chromosomes (YACs)? - Both? Answer bank: - transformed as a linear chromosome - contains a telomere sequence - used for cloning of long (greater than 10 kbp) DNA fragments - contains an origin of replication - contains par genes originating from the f' plasmid - contains a centromere sequence - transformed as a circular chromosome

Bacterial artificial chromosomes (BACs): - transformed as a circular chromosome - contains par genes originating from the f' plasmid Yeast artificial chromosomes (YACs): - contains a centromere sequence - transformed as a linear chromosome - contains a telomere sequence Both: - used for cloning of long (greater than 10 kbp) DNA fragments - contains an origin of replication

Plasmids are small circular DNA molecules found in bacteria that replicate separately from chromosomes. Why are plasmids essential for recombinant DNA technology? A. Plasmids are able to rapidly reproduce exact copies of cells, so they provide a means to acquire a large number of cells that contain a particular gene of interest. B. Plasmids can cleave the bonds between DNA strands in DNA molecules in a staggered manner, creating single‑stranded, "sticky" ends of DNA where the gene of interest can attach. C. DNA from a gene of interest can be inserted into a plasmid, then the modified plasmid can be inserted into a bacterial cell to replicate a gene of interest many times. D. Plasmids provide the enzymatic action required to denature a molecule of DNA from a gene of interest that can be used in recombinant DNA technology.

C. DNA from a gene of interest can be inserted into a plasmid, then the modified plasmid can be inserted into a bacterial cell to replicate a gene of interest many times.

The pedigree describes a family with a rare genetic disorder. Individual 11 is known to have no affected alleles. Use the pedigree to determine the mode of inheritance of the disorder. A. sex-linked dominant B. autosomal dominant C. sex-linked recessive D. autosomal recessive

C. sex-linked recessive

Reverse genetics would likely utilize all mutagenesis techniques EXCEPT _____. A. site-directed mutagenesis B. CRISPR-Cas9 C. transposable elements D. oligonucleotide-directed mutagenesis

C. transposable elements

Why is ampicillin added to the agar medium upon which transformed bacterial cells are grown? A. Ampicillin will destroy unreplicated plasmids. B. Ampicillin produces "sticky ends" on the plasmid. C. Ampicillin is a necessary nutrient for bacterial cell replication. D. Ampicillin selects for cells containing the plasmid. E. Ampicillin kills pathogenic bacterial cells.

D. Ampicillin selects for cells containing the plasmid.

Consider the list. - pattern shows sex bias with more affected males than females - affected sons are usually born to unaffected mothers - tends to skip a generation - never passes from father to son - all daughters of affected fathers are carriers Which of the inheritance patterns best fits the pedigree characteristics described in the list? A. Y‑linked B. autosomal dominant C. autosomal recessive D. X‑linked recessive E. X‑linked dominant

D. X‑linked recessive

Some human proteins that are used in therapeutics, such as insulin, can be produced by genetically modified yeast. Though genetically modified bacteria can also be used to produce these therapeutics, yeast is considered by many to be the superior type of organism to use for this purpose. What is the advantage of using yeast cells instead of bacterial cells when expressing human proteins? A. Yeast cells produce recombinant proteins faster than bacteria. B. Yeast cells use the same genetic code for specifying amino acids as human cells. C. Yeast cells splice mRNA in an identical manner as human cells. D. Yeast cells fold and modify proteins in a manner similar to human cells.

D. Yeast cells fold and modify proteins in a manner similar to human cells.

A recombinant plasmid contains: A. a foreign piece of DNA and E. coli genes. B. an origin of replication. C. a foreign piece of DNA. D. a foreign piece of DNA and an origin of replication. E. E. coli genes.

D. a foreign piece of DNA and an origin of replication.

Consider the list. - usually appears in both sexes with equal frequency - both parents can transmit the trait to their offspring - affected offspring most commonly have an affected parent - unaffected parents do not transmit the trait - does not skip generations Which of the inheritance patterns best fits the pedigree characteristics described in the list? A. autosomal recessive B. X‑linked recessive C. X‑linked dominant D. autosomal dominant E. Y‑linked

D. autosomal dominant

Suppose that various members of a family spanning four generations have a mutant phenotype that is very rare in the general population. The affected individuals are shown in the pedigree. What is the most likely mode of inheritance for this rare phenotype? A. autosomal recessive and sex‑limited to males, because unaffected parents only have affected sons B. Y‑linked, because the rare phenotype is only found in males and affected fathers pass the mutant allele to their sons in every generation C. X‑linked recessive, because affected sons inherit the sex‑linked mutation from their unaffected mothers D. autosomal dominant and sex‑limited to males, because the mutant allele can be inherited from an unaffected mother E. X‑linked dominant, because affected males pass the sex‑linked dominant mutant allele to their children

D. autosomal dominant and sex‑limited to males, because the mutant allele can be inherited from an unaffected mother

Suppose a scientist is studying the platypus, one of the few venomous mammals. The male platypus produces venom in the crural glands located beneath the calcaneus spur on each of its hind limbs. The female platypus can develop calcaneous spurs, but the crural glands never develop. Which of the following libraries would be most useful to help the scientist identify the gene or genes responsible for venom production? A. cDNA library generated from mRNA isolated from a mixture of different male platypus tissues B. cDNA library generated from mRNA isolated from the crural gland of a female platypus C. genomic DNA library generated from any tissue from a male platypus D. cDNA library made from the mRNA isolated from the crural gland of a male platypus E. genomic DNA library generated from the crural gland of a male platypus

D. cDNA library made from the mRNA isolated from the crural gland of a male platypus

A ________ is a pictorial representation of a family history that outlines the inheritance of specific characteristics. A. consanguinity B. genealogy tree C. proband D. pedigree E. carrier

D. pedigree

Gel electrophoresis is a technique for _____. A. cutting DNA at a specific base sequence B. making many copies of a DNA fragment C. separating cells with different genetic content D. separating DNA fragments on the basis of their size

D. separating DNA fragments on the basis of their size

A geneticist uses genetic engineering to treat patients who have an immune disorder caused by a mutation in the gene for adenosine deaminase. The geneticist removes white blood cells from the patients, transfers a functional gene for adenosine deaminase into the cells, and then infuses the treated cells back into the patient. This is an example of which type of gene therapy? A. both somatic and germ-line gene therapy B. neither somatic nor germ-line gene therapy C. germ-line gene therapy D. somatic gene therapy

D. somatic gene therapy

The chromatogram shows fluorescent peak data from a dye-terminating nucleotide-sequencing reaction. The peaks are shown with shortest fragment on the left to longer fragments on the right. *chart shown* Select the DNA sequence that matches the data. A. 5'-TCCAACTCGGGCGA-3' B. 5'-GATAAATCTGGTTC-3' C. 5'-AGGTTGAGCCCGCT-3' D. 5'-TCGCCCGAGTTGGA-3' E. 5'-AGCGGGCTCAACCT-3'

E. 5'-AGCGGGCTCAACCT-3'

Based on the pedigree shown on the animation, which individual(s) give(s) a clue on how to eliminate the autosomal dominant trait? A. I‑1 B. II‑4 C. IV‑8 D. III‑8 and III‑9 E. II‑2 and II‑3

E. II‑2 and II‑3

Which statement is true of DNA cloning? A. It is used to isolate specific sequences of DNA. B. It produces hybridized bacterial cells. C. It requires the enzyme DNA ligase. D. It is used to isolate specific sequences of DNA, and it produces hybridized bacterial cells. E. It is used to isolate specific sequences of DNA, and it requires the enzyme DNA ligase.

E. It is used to isolate specific sequences of DNA, and it requires the enzyme DNA ligase.

Suppose that a geneticist studies a series of characteristics in monozygotic twins and dizygotic twins. He finds various rates of phenotypic concordance for the characteristics, as shown in the table. Classify each characteristic according to whether the corresponding rates of concordance indicate a genetic influence, an environmental influence, or both genetic and environmental influences. - Genetic only? - Environmental only? - Genetic & Environmental? Answer bank: - migraine headache - handedness - high blood pressure - eye color - clubfoot - tuberculosis - measles

Genetic only: - eye color Environmental only: - measles - handedness - tuberculosis Genetic & Environmental: - migraine headache - high blood pressure - clubfoot

What is the most likely mode of inheritance in the pedigree shown? X-linked dominant X-linked recessive Y-linked autosomal dominant or autosomal recessive

autosomal dominant or autosomal recessive

What produces lower-than-normal levels of α-fetoprotein? chromosome abnormalities Down syndrome neural-tube defect Waardenburg syndrome

chromosome abnormalities

The fact that even monozygotic twins are discordant 35% of the time for asthmatic symptoms indicates that asthma is strongly influenced by environmental factors. environmental factors do not play a role in asthma. asthma is strongly influenced by genetic factors. environmental factors also play a role in asthma.

environmental factors also play a role in asthma.

Similarities between adoptees and their biological parents indicate that _____ factors influence variation in the characteristic. genetic environmental epigenetic incomplete penetrance

genetic

Which of these traits is most likely influenced by genetic differences between individuals? The numbers in parentheses indicate concordances (percentage) in monozygotic and dizygotic twins, respectively. heart attack in females (44; 14) death from acute infection (36; 28) heart attack in males (39; 26) cancer (12; 15)

heart attack in females (44; 14)

A(n) _____ is a picture of a complete set of chromosomes from an individual. proband pedigree karyotype X-ray

karyotype

The person from whom a pedigree is initiated is called the _____ and is usually designated by an arrow. carrier the paternal (male) founder of the family. the maternal (female) founder of the family. proband

proband