Question 1

Persons having an XO karyotype are sterile females. They have ____ syndrome.

Accepted Answer

A)  Turner 
B)  Klinefelter 
C)  Down (trisomy form) 
D)  Phenylketonuria 
E)  Down (translocation form) 
A)  Turner 
B)  Klinefelter 
C)  Down (trisomy form) 
D)  Phenylketonuria 
E)  Down (translocation form) A

Question 2

Compare and contrast the following three terms: polyploidy, aneuploidy, and nondisjunction. Identify and briefly discuss examples of each of these conditions.

Accepted Answer

Polyploidy is the condition in which an individual has multiple chromosome sets and is rare in animals, although common in plants (and linked with speciation events. Aneuploidy is a genetic abnormality involving the presence or absence of one chromosome. This is likely the result of nondisjunction and includes Trisomy 21 (Down syndrome and Turner syndrome (a monosomy. Nondisjunction is the condition in which homologous chromosomes fail to separate during anaphase I of meiosis and is linked to the conditions mentioned in the previous sentence.

Question 3

Down syndrome is an example of a ____ condition.

Accepted Answer

A)  monosomic 
B)  disomic 
C)  trisomic 
D)  polyploid 
E)  transgenic 
A)  monosomic 
B)  disomic 
C)  trisomic 
D)  polyploid 
E)  transgenic C

Question 4

Geneticists study pedigrees in order to predict how traits determined by phenotype are inherited from one generation to the next. 
_________________

Accepted Answer

A) True 
 B)False

Question 5

Figure 16-2   The genotypes of the normal females in the second generation in accompanying figure are:

Accepted Answer

A)  homozygous for albinism. 
B)  heterozygous for hair color. 
C)  heterozygous for albinism. 
D)  X-linked. 
E)  unknown. 
A)  homozygous for albinism. 
B)  heterozygous for hair color. 
C)  heterozygous for albinism. 
D)  X-linked. 
E)  unknown.

Question 6

What explains the viability of individuals with aneuploidies for the sex chromosomes?

Accepted Answer

A)  Sex chromosomes carry less information than autosomes. 
B)  The lack of crossing-over between the X and the Y chromosomes. 
C)  Sex chromosomes are smaller than most autosomes. 
D)  The information on sex chromosomes is duplicated on the autosomes. 
E)  Dosage compensation, by which one X chromosome per cell is inactivated. 
A)  Sex chromosomes carry less information than autosomes. 
B)  The lack of crossing-over between the X and the Y chromosomes. 
C)  Sex chromosomes are smaller than most autosomes. 
D)  The information on sex chromosomes is duplicated on the autosomes. 
E)  Dosage compensation, by which one X chromosome per cell is inactivated.

Question 7

Which of the following must be true for a female to have hemophilia?

Accepted Answer

A)  Her mother is not a carrier and her father has the disease. 
B)  Her mother is homozygous normal and her father is a carrier. 
C)  Her father and mother are heterozygous. 
D)  Her mother is a carrier and her father has the disease. 
E)  Her father is heterozygous. 
A)  Her mother is not a carrier and her father has the disease. 
B)  Her mother is homozygous normal and her father is a carrier. 
C)  Her father and mother are heterozygous. 
D)  Her mother is a carrier and her father has the disease. 
E)  Her father is heterozygous.

Question 8

Figure 16-2   Refer to the accompanying figure. Based on the phenotypes of the third generation, the genotype of the father in the second generation must be:

Accepted Answer

A)  homozygous for albinism. 
B)  heterozygous for hair color. 
C)  heterozygous for albinism. 
D)  X-linked. 
E)  dominant. 
A)  homozygous for albinism. 
B)  heterozygous for hair color. 
C)  heterozygous for albinism. 
D)  X-linked. 
E)  dominant.

Question 9

FISH distinguishes chromosomes by using more than one fluorescent-tagged RNA strand, which will bind to complementary DNA sequences on a specific chromosome. 
_________________

Accepted Answer

A) True 
 B)False

Question 10

In trisomy 21, while all genetic information is intact, a(n) abnormal copy of this chromosome creates a genetic imbalance which causes abnormal physical and mental development. 
_________________

Accepted Answer

A) True 
 B)False

Question 11

Make a sketch showing how nondisjunction in meiosis can result in Down syndrome.

Accepted Answer

The sketch should show how a g

Question 12

What is the role of heterozygote advantage in maintaining high frequencies of mutant alleles in populations?

Accepted Answer

Heterozygotes for these mutant alleles h

Question 13

Polyploidy may arise from the failure of chromosomes to separate during cell division or by the fertilization of an egg by more than one sperm. 
_________________

Accepted Answer

A) True 
 B)False

Question 14

According to data from the ENCODE project, approximately 80% of the human genome is associated with biological function.

Accepted Answer

A) True 
 B)False

Question 15

An individual who inherits the specific chromosome ____ deletion from his/her ____ will most likely have Prader-Willi syndrome rather than Angelman syndrome.

Accepted Answer

A)  15; mother 
B)  15; father 
C)  21; mother 
D)  21; father 
E)  12; father 
A)  15; mother 
B)  15; father 
C)  21; mother 
D)  21; father 
E)  12; father

Question 16

Sickle cell anemia and cystic fibrosis are examples of a(n) homozygote advantage. 
_________________

Accepted Answer

A) True 
 B)False

Question 17

Huntington's disease is caused by a:

Accepted Answer

A)  rare recessive allele. 
B)  nucleotide triplet repeat. 
C)  monosomic condition. 
D)  dominant X-linked allele. 
E)  deletion of part of chromosome 4. 
A)  rare recessive allele. 
B)  nucleotide triplet repeat. 
C)  monosomic condition. 
D)  dominant X-linked allele. 
E)  deletion of part of chromosome 4.

Question 18

The normal human karyotype contains ____ total chromosomes, consisting of ____ autosomes and ____ sex chromosomes.

Accepted Answer

A)  23; 22; 1 
B)  44; 22; 1 
C)  46; 22; 2 
D)  46; 23; 0 
E)  22; 20; 2 
A)  23; 22; 1 
B)  44; 22; 1 
C)  46; 22; 2 
D)  46; 23; 0 
E)  22; 20; 2

Question 19

Identify human genetic defects or diseases that are inherited as: 
A. an autosomal recessive. 
B. an autosomal dominant. 
C. an X-linked recessive.

Accepted Answer

A. An autosomal recessive defect in the

Question 20

Gene therapy involves:

Accepted Answer

A)  replacing all mutant alleles in body cells. 
B)  replacing poor copies of alleles with normal alleles. 
C)  replacing a mutant allele in certain body cells with a normal allele. 
D)  repairing mutant alleles in certain body cells. 
E)  improving gene expression in key body cells. 
A)  replacing all mutant alleles in body cells. 
B)  replacing poor copies of alleles with normal alleles. 
C)  replacing a mutant allele in certain body cells with a normal allele. 
D)  repairing mutant alleles in certain body cells. 
E)  improving gene expression in key body cells.

Exam 16: Human Genetics and the Human Genome

Persons having an XO karyotype are sterile females. They have ____ syndrome.

Compare and contrast the following three terms: polyploidy, aneuploidy, and nondisjunction. Identify and briefly discuss examples of each of these conditions.

Down syndrome is an example of a ____ condition.

Geneticists study pedigrees in order to predict how traits determined by phenotype are inherited from one generation to the next. _________________

Figure 16-2 The genotypes of the normal females in the second generation in accompanying figure are:

What explains the viability of individuals with aneuploidies for the sex chromosomes?

Which of the following must be true for a female to have hemophilia?

Figure 16-2 Refer to the accompanying figure. Based on the phenotypes of the third generation, the genotype of the father in the second generation must be:

FISH distinguishes chromosomes by using more than one fluorescent-tagged RNA strand, which will bind to complementary DNA sequences on a specific chromosome. _________________

In trisomy 21, while all genetic information is intact, a(n) abnormal copy of this chromosome creates a genetic imbalance which causes abnormal physical and mental development. _________________

Make a sketch showing how nondisjunction in meiosis can result in Down syndrome.

What is the role of heterozygote advantage in maintaining high frequencies of mutant alleles in populations?

Polyploidy may arise from the failure of chromosomes to separate during cell division or by the fertilization of an egg by more than one sperm. _________________

According to data from the ENCODE project, approximately 80% of the human genome is associated with biological function.

An individual who inherits the specific chromosome ____ deletion from his/her ____ will most likely have Prader-Willi syndrome rather than Angelman syndrome.

Sickle cell anemia and cystic fibrosis are examples of a(n) homozygote advantage. _________________

Huntington's disease is caused by a:

The normal human karyotype contains ____ total chromosomes, consisting of ____ autosomes and ____ sex chromosomes.

Identify human genetic defects or diseases that are inherited as: A. an autosomal recessive. B. an autosomal dominant. C. an X-linked recessive.

Gene therapy involves:

A View of Life

Atoms and Molecules the Chemical Basis of Life

The Chemistry of Life Organic Compounds

Organization of the Cell

Biological Membranes

Cell Communication

Energy and Metabolism

How Cells Make Atp Energy-Releasing Pathways

Photosynthesis Capturing Light Energy

Chromosomes, Mitosis, and Meiosis

The Basic Principles of Heredity

Dna the Carrier of Genetic Information

Gene Expression

Gene Regulation

Dna Technology and Genomics

Developmental Genetics

Introduction to Darwinian Evolution

Evolutionary Change in Populations

Speciation and Macroevolution

The Origin and Evolutionary History of Life

The Evolution of Primates

Understanding Diversity Systematics

Viruses and Subviral Agents

Bacteria and Archaea

Protists

Seedless Plants

Seed Plants

The Fungi

An Introduction to Animal Diversity

Sponges, Cnidarians, Ctenophores, and Protostomes

The Deuterostomes

Plant Structure Growth and Development

Leaf Structure and Function

Stem Structure and Transport

Roots and Mineral Nutrition

Reproduction in Flowering Plants

Plant Developmental Responses to External and Internal Signals

Animal Structure and Function an Introduction

Protection Support and Movement

Neural Signaling

Neural Regulation

Sensory Systems

Internal Transport

The Immune System Internal Defense

Gas Exchange

Processing Food and Nutrition

Osmoregulation and Disposal of Metabolic Wastes

Endocrine Regulation

Reproduction

Animal Development

Animal Behavior

Introduction to Ecology Population Ecology

Community Ecology

Ecosystems and the Biosphere

Ecology and the Geography of Life

Biological Diversity and Conservation Biology

Filters

An individual who inherits the specific chromosome deletion from his/her will most likely have Prader-Willi syndrome rather than Angelman syndrome.

The normal human karyotype contains total chromosomes, consisting of autosomes and sex chromosomes.