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