Genetics Chapter 1
Which autosome is the largest
1
What is the general population's risk of having a second child with Down's syndrome
1 in 100
If you are above 40 years old what is your chance of having a child with down syndrome after the first child had down syndrome
1 in 63
What is the risk of having a second child with Down's syndrome if you are in your 40's
1 in 63
List three ways that inherited disease differs from other types of illnesses
1. one can predict recurrence risk in other family members 2. Predictive testing is possible 3. Different populations may have different characteristic frequencies
What are the four steps involved in genetic testing
1. research and record family history 2. provide cell sample 3. isolate sample DNA and apply to personalized DNA microarrays 4. calculate and communicate results
How much of the human genome codes for proteins
1.5 %
which autosome is smallest
22
A human female has ____ pairs of autosomes and the sex chromosome complement of
22, XX
how many sex chromosomes are there in a single human cell
23
How many chromosomes are there in a single human cell
23 pair
How many of those pairs contain protein encoding genes
24,000
How many bases are in human DNA
3 billion base pairs
How many chromosomes do you have
46 chromosomes
no matter what genome region studied what percentage of the DNA sequence studied was identical
99.9%
Which of the following is the genetic material a. DNA b. RNA c. protein d. it has not been identified
A
What does placental mammal mean
A mammal that nurtures its unborn young through a maternal organ called a placenta
what do three DNA bases code for
A particular amino acid
Through the studies of polymorphisms, where does it appear modern humans arose
Africa
What are the first 22 pairs of chromosomes called
Autosomes
Difference between an autosome and a sex chromosome
Autosomes are chromosomes other than sex chromosomes Sex chromosomes determine the sex of a person
What gene is responsible for less than 5% of all breast cancer
BRAC1
What biochemical forms genes
DNA
Name the device in which genes are arranged in a fixed position
DNA Microarray
Distinguish between DNA and RNA
DNA is the blueprint of biological guidelines RNA helps carry out these blueprints guidelines
What is the idea that an inherited trait is unchangeable and its appearance inevitable
Determinism
Distinguish between gene and genome
Genes are composed of DNA, they are the units of inheritance and they specify particular proteins Genomes are a complete set of genetic instructions for an organism
Place the following terms in size order, from largest to smallest, based on the structures or concepts they represent: chromosome, gene pool, gene, DNA, genome
Genome, Chromosome, gene pool, gene, DNA
Distinguish between genomics and proteomics
Genomics is the new field of investigating how genes interact and comparing genomes Proteomics is the study of proteins in genes
Mutants are often depicted in the media as being, abnormal, ugly, or evil. Why is this not necessarily true?
It is not necessarily true because a normal person could have a mutation yet look almost the same as everyone else
Term used when describing the presence of a pair of alleles
Mendelian genetics
Distinguish between Mendelian trait and multifactoral trait
Mendelian traits are determined by one gene Multifactoral traits are determined by one or more genes and the environment
A variant in sequence that is present in at least 1% of a population is called a
Polymorphism
What biochemical is the go between for DNA to proteins
RNA
What have researchers recently discovered about RNA
RNA controls itself
What carry the instructions to manufacture proteins
RNAi
Keeping DNA databases of convicted felons has led to the solution of many crimes, and the exonerations of many innocent people. What might be the benefits and dangers of establishing databases on everyone? How should such a program be instituted?
The benefit would be that people could access the information easier, the danger would be that anyone might be able to find the information. The program should have as much security on it, as the white house does.
In a search for a bone marrow transplant donor, why would a patient's siblings be considered before first cousins
The closer related you are to the person, the better fit you are for the transplant.
Distinguish between genotype of phenotype
The genotype is the genetic code in its cells The phenotype is the expressed trait
What does RNA interference regulate
The presence of certain fragments of double-stranded RNA interferes with the expressed particular gene, which shares a homologous sequence with the dsRNA
Why are other ethnicitites less likely to inherit the BRAC1 mutation than Ashkenazic Jews
The second group has different alleles of other genes that interact with BRAC1
health insurance forms typically ask for applicants to list existing or preexisting conditions. How do genetic test results differ from this
The test results are not preexisting conditions, but the probablitlity of getting those diseases.
What term is used to describe the study of traits in families
Transmission genetics
How do variants of a gene arise
Unequal crossing over
What sex chromosome combination makes a human female
XX
hat sex chromosome combination make a human male
XY
Stem cells
a cell that upon division replaces its own number and also gives rise to cells that differentiate into one or more specialized types
gene expression
a cell's use of DNA information to manufacture specific proteins
Pedigrees
a diagram used to follow inheritance of a trait in a family
A gene may have many alleles but each individual has only two alleles because
a person has two parents who each contribute one allele
What is the danger of do-it-yourself at home genetic testing
a person may conclude that the detection of a mutation means unavoidable disease
Polymorphism
a site in a genome that varies in 1 percent or more of a population
What is the most primitive placental mammal
aardvark
What risk comes from observing a population
absolute risk
Name the four nitrogen bases
adenine, guanine, cytosine, thymine
Gene pool
all of the genes in a population
What are differences in genes called
alleles
Variants of genes are called ____ and arise by a process called _____
alleles; mutation
Alleles
an alternate form of a gene
Genes
are the units of heredity
What are the three parts to a nucleotide
base, sugar, and a phosphate group
What is the name of the field of study that deals with the personal issues that arise when applying medical technology
bioethics
What is the lymphochip used to identify
cancer-causing and associated genes in white blood cells
Name the basic unit of life
cells
What do genes make-up
chromosomes
It produces an effect when present in only one copy
dominate allele
What do the amino acid sequences of two organisms tell us
gene coding
The alleles in a population constitute the
gene pool
The technique of _____ attempts to correct certain genetic disorders
gene therapy
What type of therapy might Laurel be a candidate for
gene therapy
A transgenic organism has
genes from different species
After having genetic testing done, who explains the results to the patient
genetic counselor
What is the term used to describe all of the genetic material in the cells of a particular type of organism
genome
Name the study of the functions and interactions of many genes at a time
genomics
The ____ refers to the allele combinations for particular genes while ___ is the expression of that allele combination
genotype; phenotype
when dealing with relative risk, what does a number less than 1 indicate
indicates that the chance of developing a certain illness is less than the general population
What type of illness is rare
inherited forms
Linda and Ben request prenatal genetic testing to determine if their unborn child has down syndrome. Cells are collected from the fetus and the chromosomes are examined in a ____ analysis
karyotype
Name the chart that shows all of the chromosomes in order from largest to smallest
karyotypes
What does the rest of the human genome code for
many highly repeated sequences with unknown functions
what type of trait is easy to predict its probability
mendelian
Traits that are at least partly determined by the environment are called
multifactorial
What is a trait that is influenced by genes and the environment called
multifactorial traits
where do variants in a gene come from
mutations
If a difference exists in at least 1% of the population what is it called
polymorphism
What term is used to describe a group of interbreeding individuals
population
Biotechnology
practical use of biological processes
What do amino acids build
proteins
Gene Therapy
provided a more lasting cure by replacing the instructions from producing the protein
What is defined by fewer than 0.01 percent of our genes
race
To appear there must be two of these alleles present
recessive alleles
How do genetic diseases differ from other diseases
recurrence risk is predictable pre symptomatic testing is possible different populations have different characteristic frequencies
Transgenic
relating to or being an organism whose genome has been altered by the transfer of a gene or genes from another species or breed
What is a single nucleotide polymorphism
single base sites that differ among individuals
What do organs contain that are rare and divide to either make more of themselves
stem cells
Differentiation
the process by which cells or tissues undergo a change toward a more specialized form or function
Genetic testing
the process of analyzing DNA samples to detect the presence of a gene or genes associated with an inherited disorder
what do the do-it-yourself at home genetic tests results show
they show what your chance of being diagnosed with certain are
Is this true or false Two members of different races may have more alleles in common than two members of the same race
true
The latest DNA analysis indicates that modern dogs descended from
wolves in China