Human Genetics Chapter 1

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In a study, 3,794 of 4,000 people who have acne have a particular set of SNPs. Only 184 of 3,984 people who do not have acne, but are otherwise similar to the people with acne, have that SNP pattern. Therefore, these parts of the genome with this SNP pattern may include genes whose products affect the skin. This investigation is an example of a

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genome-wide association study.

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Constructing a "diseasome" is a way to connect diseases that share certain gene expression patterns. One goal of this approach is to

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cure cancer

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The Genetic Information Nondiscrimination Act defines a genetic test as an analysis of

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human DNA, RNA, proteins, or chromosomes.

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The field that investigates the different proteins in specialized cell types is

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proteomics

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A gene pool consists of all the alleles in a(n)

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population

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The complete genetic material of an organism is its

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genome

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Biotechnology grew out of

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agriculture

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A change in a gene's DNA sequence is a(n)

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mutation

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Cells differentiate by

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expressing different subsets of genes

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Nacho suffers from terrible migraine headaches. He enters a clinical trial to test whether certain single nucleotide polymorphisms (SNPs) are associated with response to one drug but not another. This is an approach called

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pharmacogenomics

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DNA is composed of small units called

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nucleotides

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The process of synthesizing a protein from an RNA molecule is known as

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translation

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Body weight must be a multifactorial trait because

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it is inherited to an extent, but can be altered by diet and/or exercise.

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A genotype refers to

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particular allele combinations.

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Humans have __ pairs of chromosomes.

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23

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The number of copies of our genome in most of our cells is __.

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2

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One way to study the human genome is to

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1) determine the DNA sequence

2) comparing and anlayzing genomes

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The difference between phenotype and genotype is that

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genotype refers to the genetic instructions and phenotype to their expression.

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One way that single-gene diseases differ from other diseases is that

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it is possible to predict occurrence in specific relatives.

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Studying the DNA of human and a chimpanzee to find their closest common ancestor is an example of __________ genetics.

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evolutionary

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A human cell has

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22 pairs of autosomes and one pair of sex chromosomes.

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An estimated _____ DNA base pairs comprise the human genome.

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3.2 billion

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A trait or disorder that is multifactorial is

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caused by one or more genes plus environmental influences.

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Shawn's mother and Heather's mother are sisters. Shawn and Heather have __ of their genes in common.

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1/8

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A single nucleotide polymorphism is

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a single base site in the genome that varies among individuals in a population.

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Genetics is the study of

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the variation of inherited traits

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Gene expression profiles of different cell types reflect different sets of

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mRNAs

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The study of DNA, RNA, and proteins constitutes

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molecular genetics

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A chart that displays paired chromosomes in size order is a

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karyotype

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DNA profiling has been used to

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identify victims of terrorist attacks and natural disasters.

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In which choice are the entries listed from smallest to largest?

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DNA nucleotide - gene - chromosome - genome

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The synthesis of a RNA molecule is referred to as

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transcription

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What is found in DNA

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1) adenine

2) thymine

3) cytosine

4) guanine

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A human body has about _____ cells.

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50 to 100 trillion

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A test performed on secretions on a piece of fabric left at a crime scene that is used to implicate an apprehended suspect is

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DNA profiling.

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In general, RNA molecules

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use the information in specific DNA sequences to construct proteins.

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A sequence of DNA that contains the information needed to eventually synthesize a single protein is called a

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gene

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A variant in a DNA sequence present in at least 1% of a population is a(n)

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polymorphism

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The four basic tissue types are

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connective tissue, epithelium, muscle, and nervous tissue.

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The distinction between mutations and gene expression is that

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mutations are changes in the DNA sequence, whereas gene expression refers to the extent to which a gene is transcribed and translated, producing protein.

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The largest autosome is

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chromosome 1.

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Kanisha and her friend both receive their grades for their physics midterms. Kanisha got an A, but her friend received a D. "You must have the physics gene," remarks her friend. "I don't. I might as well not bother studying." The friend's attitude illustrates the idea of

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genetic determinism

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Chromosomes are a combination of

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Protein and DNA.

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Sequencing all the DNA in the fluid that leaks from the bottom of a garbage can is an example of

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metagenomics

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Cells differentiate to form

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tissues

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Skin color is partially a result of inherited genes and partially a result of sun exposure. This makes skin color an example of a(n)

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multifactorial trait

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A melon that has been altered to produce a protein normally made only in a cabbage is

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transgenic

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Variants of a gene are called

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alleles