genetics final
All of the following are cytokines except
perforins
In order to identify (or rule out identity) from a DNA sample that is a mixture, the investigator should know
the population groups to which the person of interest belongs or belonged.
Consanguineous marriages are between men and women who are
"blood" relatives
Tay-Sachs disease affects in 1 in 3,600 Ashkenazim births. The value of q2 is
0.0003
The probability of cancer development in the general population is one is _____ people.
1 in 3
Currently in the United States, approximately _____ couples have difficulty in conceiving or giving birth to children.
1 in 6
The type of RNA that carries out RNA interference is
double stranded RNA
If one person in 50 is a carrier of an autosomal recessive disorder in a population, the chance that an unrelated man and woman are both carriers is
1/2500.
The first patent on a living organism was granted in
1873, for Louis Pasteur's use of yeast.
Infertility affects around one in ____ males.
25
In a population in Hardy-Weinberg equilibrium, 75 percent of the individuals have a dominant allele for a particular gene (p=0.75) and 25 percent have a recessive allele (q=0.25). The proportion of homozygous recessive individuals in the F1 generation will be
6.25%.
A man who is paralyzed from a spinal cord injury might become a father using
?
Human leukocyte antigens (HLA) genes account for about _____ percent of the genetic influence on immunity
?
One of the science-related concerns associated with the use of genetically modified (GM) foods is that
?
Most of the effort involved in recombinant DNA technology involves
? creating many copied of specific DNA?
The first mutation typically detected in FAP (familial adenomatous polyposis) colon cancer is
APC mutation
Mutations that enable cancer cells to grow and divide faster than other normal cells are known as _____ mutations.
driver
Which type of white blood cell secretes specific antibodies?
B cell
Preimplantation genetic diagnosis (PGD) screens _____ for genetic disorders.
early embryos
The process in which bacteria with the ability to detoxify certain pollutants are released in a particular area is known as
Bioremediation
Which of these are thought to have anti-cancer benefits?
Cruciferous vegetables
People who cannot become infected with HIV have
Deletions in the genes encoding the CCR5 co-receptor
Transgenic organisms carry the transgene in
Every cell
Which of the following is incorrectly paired?
GIFT; fertilization occurs in a laboratory dish
Identifying combinations of _____ alleles is useful in tissue typing, establishing identity, and estimating disease risk.
HLA
A procedure that places an oocyte and sperm in a culture dish, allows a few cell divisions, and then places the resulting very early embryo in the oocyte donor's uterus is
IVF
In a population in Hardy-Weinberg equilibrium, the frequency of recessive alleles will _____ over time.
remain the same
In an allergic reaction, allergens bind _____, which release allergy mediators.
IgE antibodies on mast cell surfaces
The first drug produced using recombinant DNA technology was
Insulin
_____ places sperm into a woman's reproductive tract to fertilize an oocyte.
Intrauterine insemination
_____ was the first "test tube baby."
Louise Joy Brown
_____ in the human population reduced the incidence and virulence of tuberculosis in the early twentieth century.
Natural selection
_____ uses a blastomere biopsy to obtain a cell to test for genetic and chromosomal abnormalities.
Preimplantation genetic diagnosis
Who invented DNA profiling?
Sir Alec Jeffreys
Cancer does not typically follow a Mendelian pattern of inheritance because it is usually caused by
Specific Combinations of Alleles/ environmental factors
The two major types of lymphocytes are
T and B cells
The DNA sequence GATCTGATCTGATCTGATCT is a(n)
VNTR
VNTRs and STRs differ in that
VNTR repeat is longer than an STR repeat.
The procedure in which fertilization takes place in a laboratory dish and the resulting zygote is placed in the woman's uterine tube is called
ZIFT
The species naturally affected by Leber's congenital amaurosis II that led to development of gene therapy is
a breed of dog.
Which of the following is an assisted reproductive technology?
a couple conceive using sperm from a sperm bank
An ectopic pregnancy results when
a fertilized ovum begins to develop in the uterine tube.
A small group of islanders leave "island A" and travel to "island B." After several generations on island B, a researcher finds that a large percentage of the population is left-handed. Left-handedness is a relatively rare trait on island A. A genetic event that explains this is
a founder effect
A sharp cline may indicate
a geographical obstacle, such as a mountain.
Matthew has the inherited form of the eye cancer retinoblastoma (RB). His disease is caused by
a germinal mutation in one RB allele and a somatic mutation in the other allele.
In an allograft, the tissue donor is
a non-relative
A typhoon devastates a population on "island A" and only a few individuals survive. Several generations later, the replenished population suffers from several inherited disorders that are very rare in other groups. A genetic event that explains this is
a population bottleneck
Surgery is an effective method of treating cancer when
a primary tumor is yet to invade healthy tissue.
Many alleles cause phenylketonuria (PKU). A unique mutation found only in Yemenite Jews is probably
a result of genetic drift.
Combined DNA Index System (CODIS) is
a system for crime laboratories to share DNA profiles.
In gamete intrafallopian transfer (GIFT), fertilization occurs in
a uterine tube.
The functions of antibodies include
activating complement, inactivating pathogens, and clumping pathogens
Which of the following is a vector used to deliver genes in human gene therapy?
adeno-associated virus
Using gene therapy to correct ornithine transcarbamylase deficiency (OTC) would prevent buildup of _____ in the blood.
ammonia
Germline gene therapy would correct a genetic defect in
an affected individual and all of his or her descendants.
Newborn screening using mass spectrometry identifies certain single-gene disorders by detecting
an unusual metabolite or metabolic imbalance.
An antigen is
any molecule that can elicit an immune response
Darwin bred pigeons to have particular traits. Today people breed dogs, cats, horses, and other animals for the same reason. These activities illustrate
artificial selection
A genetic counselor might discuss assisted reproductive technologies with a couple who wish to
avoid one parent's passing on a disease-causing allele to a child.
Mitochondrial DNA (mtDNA) is helpful in obtaining a DNA profile for very degraded genetic material because
cells have many mitochondria, and therefore several copies of mtDNA sequences.
In Wilms' tumor,
cells in a child's kidney divide as frequently as if they were still in a fetus.
The connection between stem cells and cancer is that
cells may become cancerous by expressing "stemness" genes.
Caley, a 30-year-old nurse at Bethson Hospital, is diagnosed with a brain tumor. Caley's doctor presents her with multiple treatment options. Which of the following treatment options is most likely to damage Caley's healthy cells in addition to the cancer cells?
chemotherapy
A woman who is infertile because she lacks ovaries would benefit most from
embryo adoption.
Clines are created when
emigrants remove alleles and immigrants introduce alleles
Inflammation helps to fight infection by
creating an environment in the body that is hostile to pathogens
Helper T cells secrete
cytokines
The term used to describe the fact that cancer cells have lost the specializations of the cells from which they descend is
dedifferentiated.
Balanced polymorphism explains why carriers of cystic fibrosis are relatively resistant to
diarrheal illness
Newborn screening reveals that newborn Jessica has inherited phenylketonuria (PKU). Her parents are distraught at the diagnosis, but a nutritionist explains that Jessica can be treated, right away. The treatment for PKU is
dietary
Cancer cells
divide uncontrollably and are immortal.
Natural selection has fueled the rise in MRSA (methicillin-resistant Staphylococcus aureus) infection by
enabling certain bacterial variants to survive in the presence of many antibiotic drugs
Excess tissue growing in the uterine lining is called
endometriosis
Control of human reproduction to achieve a societal goal is called
eugenics
Sheree is referred to a genetic counselor because a cystic fibrosis (CF) test done as a routine part of her prenatal care indicated that she is a carrier of the most common mutant allele. Sheree is stunned, because no one in her family has the disease. She is 26 years old. The genetic counselor would most likely
explain autosomal recessive inheritance and suggest that Sheree's husband be tested for CF.
Which of the following might a genetic counselor do as part of her job?
explain the inheritance of a specific disorder in a family, evaluate risks for relatives, and advise on genetic testing
A suspect's guilt seems highly likely when a very rare combination of markers is
found in the population the suspect comes from, in the suspect's DNA, and at the crime scene.
When all individuals in a population with a certain illness have the same mutation, which present-day patients inherited from shared ancestors, it is an evidence of
founder effect
All of the genes in a population comprise its
gene pool
A _____ mutation is one that is present in every cell of an individual, including gametes.
germline
A woman who has a baby via embryo adoption is her child's
gestational mother only.
The genes of the human leukocyte antigens (HLA) system encode cell surface
glycoproteins
Severe combined immune deficiencies (SCID) affect both
humoral and cellular immunity
The part of an antigen binding site on an antibody that binds antigen is the
idiotype
A nasal spray for cystic fibrosis patients, which contains adenovirus particles carrying a normal human CFTR gene, is an example of
in vivo gene therapy.
In human populations, Hardy-Weinberg equilibrium is seen
infrequently and in large communities with random mating.
A more recently developed cancer treatment is
inhibiting kinases based on genetic information or inhibiting angiogenisis
Which of the following would provide the longest lasting treatment for Leber's congenital amaurosis II?
injecting adeno-associated virus carrying a wild type version of the RPE65 gene into affected cells of the retina
The difference between innate immunity and adaptive immunity is that
innate immunity is fast and generalized; adaptive immunity is slow and specific
Bacteriophages can be used as vectors in recombinant DNA experiments because they
insert genetic information into Bacteria
To create a transgenic organism, a researcher
introduces foreign DNA
Proteins isolated from bacteria and used in recombinant DNA technology to cut DNA at specific sequences are
restriction enzymes
In normal differentiated somatic cells, telomerase
is not expressed and telomere tips erode with each division.
Hardy-Weinberg equilibrium is possible only if the population is
large, with random mating and no migration, mutation, genetic drift, or natural selection.
Tiny fat bubbles used to deliver genes are
liposomes
A person who is a heterozygote for G6PD deficiency is protected against
malaria
In an endogamous community,
many people marry people from within the community
A cancer's spread is called
metastasis
The difference between microevolution and macroevolution is that
microevolutionary changes are small, and macroevolutionary changes are large.
Gene flow is the
movement of alleles between populations.
Which of these affects allele frequencies the least?
mutation
_____ maintains deleterious alleles in a population.
mutation
The population of HIV variants in a person's body changes during the course of infection due to
natural selection
In a population in Hardy-Weinberg equilibrium, frequency of a dominant allele is
p
The requirements for patenting of an invention involving DNA in the U.S. are that it should be
new, useful, not obvious to an expert in the field
The fact that nearly everyone on the island of Sardinia has the same X chromosome sequence indicates that the population has experienced
nonrandom mating
The prevalence of a Y chromosome with the same sequences as Genghis Khan illustrates
nonrandom mating
Nondirective genetic counseling
offers options but not opinions.
Which of the following contributes to subfertility?
oligospermia
The logic behind polar body biopsy is based on
one of the mendelian ones
Maxwell needs to take an anti-depressant drug. He enrolls in a clinical trial to detect genetic variants and gene expression profiles associated with response to various drugs. This approach to selecting a therapeutic drug is called
pharmacogenomics
Enzyme replacement therapy treats
phenotype
A naturally occurring, small, circle of DNA used as a vector to transmit DNA is a
plasmid
Frequency of an X-linked recessive allele in males equals
q
Sporadic cancers result from
recessive or dominant mutations
A molecule that consists of a piece of DNA from one organism combined with the DNA from a member of another species is called
recombinant DNA
A gatekeeper gene
regulates apoptosis and mitosis.
Adenosine deaminase (ADA) deficiency results in
severe combined immune deficiency
A woman is given RhoGAM to protect future fetuses from hemolytic disease of the fetus and newborn if
she is Rh- and the father is Rh+.
A gene expression microarray has
short pieces of DNA of known sequence attached to a small plastic or glass square
Researchers began using short tandem repeats (STRs) because
shorter DNA molecules were more likely to persist in a violent situation.q
Antibody diversity is a consequence of
shuffling of antibody genes into different combinations during B cell development
Nonheritable gene therapy is performed on _____ cells.
somatic
A patient received bone marrow modified by an adeno-associated virus (AAV) carrying a human gene that encodes an enzyme her body could not make. This is an example of
somatic gene therapy
Morpholinos are
synthetic molecules that consist of 25 DNA bases attached to organic groups.
An example of an autoimmune disorder is
systemic lupus erythematosis
Diagnosis of hereditary hemochromatosis cannot be based on the results of a genetic test alone because
the disease is non penetrant.
One of the most important types of information that a patient can bring to an initial appointment with a genetic counselor is
the family health history, extending to second degree relatives.
Patent law as it pertains to biotechnology has had to change in recent years in response to
the greatly accelerated speed of DNA sequencing.
In the Hardy-Weinberg equation, 2pq refers to
the proportion of heterozygotes in a population.
A test offered on the Web by a direct-to-consumer genetic testing company genotypes a gene for ability to taste bitter substances. This test is not regulated by the Clinical Laboratory Improvement Amendments (CLIA) because
the test provides information, not a diagnosis.
A limitation of transgenesis is that
the transgene can insert anywhere in the genome.
DNA profiling was less useful in identifying remains from the 2004 tsunami than in criminal cases because
the tsunami left few bodies with collectible DNA.
_____, a recombinant clotbusting drug, is used to limit damage to heart muscle by restoring blood flow.
tissue plasminogin activators
The oncogene that causes Burkitt lymphoma results from a
trans-location that moves a proto-oncogene
A multicellular organism that carries DNA from other species is termed
transgenic
A cancer cell is injected into a healthy mouse. The mouse develops tumors. This experiment indicates that cancer is
transplantable
Lisa and Jack Nash obtained compatible stem cells that cured their young daughter Molly's Fanconi anemia by
using umbilical cord stem cells from a younger sibling, who was conceived and selected for this purpose.
A surrogate mother can help couples have a child when the woman does not have a functional
uterus