Question 1

Autosomal aneuploidies arise by:

Accepted Answer

A)  chromosome breakage and rejoining. 
B)  meiotic nondisjunction. 
C)  errors in crossing-over. 
D)  mistakes in chromosome replication. 
E)  mitotic nondisjunction. 
A)  chromosome breakage and rejoining. 
B)  meiotic nondisjunction. 
C)  errors in crossing-over. 
D)  mistakes in chromosome replication. 
E)  mitotic nondisjunction.

Question 2

A genetic counselor will know that the probability of having a child affected with a condition inherited as an autosomal recessive would be:

Accepted Answer

A)  0.5 or 50% if both parents were homozygous normal. 
B)  0.5 or 50% if both parents were heterozygous. 
C)  0.25 or 25% if both parents were homozygous normal. 
D)  0.25 or 25% if both parents were heterozygous. 
E)  0% if both parents were heterozygous. 
A)  0.5 or 50% if both parents were homozygous normal. 
B)  0.5 or 50% if both parents were heterozygous. 
C)  0.25 or 25% if both parents were homozygous normal. 
D)  0.25 or 25% if both parents were heterozygous. 
E)  0% if both parents were heterozygous.

Question 3

Preimplantation genetic diagnosis is done:

Accepted Answer

A)  on cells of an in vitro fertilized embryo. 
B)  in the womb, before birth. 
C)  after a woman is pregnant, but before the embryo implants. 
D)  with the help of ultrasound. 
E)  before fertilization on the sperm and the egg. 
A)  on cells of an in vitro fertilized embryo. 
B)  in the womb, before birth. 
C)  after a woman is pregnant, but before the embryo implants. 
D)  with the help of ultrasound. 
E)  before fertilization on the sperm and the egg.

Question 4

What was revealed with the completion of the Human Genome Project?

Accepted Answer

A)  The sequence of the entire human genome 
B)  The functions of all human genes 
C)  The knowledge that all genetic variations lead to genetic disease 
D)  The knowledge that all genetic variations are found outside of protein-coding regions 
E)  The number, but not the locations, genes in the human genome 
A)  The sequence of the entire human genome 
B)  The functions of all human genes 
C)  The knowledge that all genetic variations lead to genetic disease 
D)  The knowledge that all genetic variations are found outside of protein-coding regions 
E)  The number, but not the locations, genes in the human genome

Question 5

Polyploidy:

Accepted Answer

A)  may be the result of more than one sperm fertilizing an egg. 
B)  is not lethal in humans. 
C)  may be the result of the failure of a chromosome to separate during meiosis. 
D)  can be due to nondisjunction for a chromosome. 
E)  is the mechanism of dosage compensation. 
A)  may be the result of more than one sperm fertilizing an egg. 
B)  is not lethal in humans. 
C)  may be the result of the failure of a chromosome to separate during meiosis. 
D)  can be due to nondisjunction for a chromosome. 
E)  is the mechanism of dosage compensation.

Question 6

Aneuploidies describe:

Accepted Answer

A)  a phenomenon that only occurs in plants. 
B)  a condition in which an extra chromosome is present or one is absent. 
C)  a defect that is always fatal in humans. 
D)  an uncommon condition in humans. 
E)  mutations that almost always have a beneficial effect on an individual. 
A)  a phenomenon that only occurs in plants. 
B)  a condition in which an extra chromosome is present or one is absent. 
C)  a defect that is always fatal in humans. 
D)  an uncommon condition in humans. 
E)  mutations that almost always have a beneficial effect on an individual.

Question 7

Down syndrome is characterized by:

Accepted Answer

A)  single base mutations. 
B)  the presence of 47 chromosomes per somatic cell. 
C)  increasing risk with younger maternal age. 
D)  the presence of an extra chromosome 18 in each somatic cell 
E)  the same symptoms observed in each individual. 
A)  single base mutations. 
B)  the presence of 47 chromosomes per somatic cell. 
C)  increasing risk with younger maternal age. 
D)  the presence of an extra chromosome 18 in each somatic cell 
E)  the same symptoms observed in each individual.

Question 8

Figure 16-2   The inheritance pattern demonstrated by the pedigree in accompanying figure is:

Accepted Answer

A)  autosomal recessive. 
B)  autosomal dominant. 
C)  X-linked recessive. 
D)  X-linked dominant. 
E)  undeterminable from these data. 
A)  autosomal recessive. 
B)  autosomal dominant. 
C)  X-linked recessive. 
D)  X-linked dominant. 
E)  undeterminable from these data.

Question 9

Fragile X syndrome:

Accepted Answer

A)  results in learning, attention, and hyperactivity disabilities in males. 
B)  is not inherited from the parents. 
C)  is characterized by a fragile site at the tip of the Y chromosome. 
D)  results from a deletion of CGG sequences in the fragile X gene. 
E)  is due to genomic imprinting.. 
A)  results in learning, attention, and hyperactivity disabilities in males. 
B)  is not inherited from the parents. 
C)  is characterized by a fragile site at the tip of the Y chromosome. 
D)  results from a deletion of CGG sequences in the fragile X gene. 
E)  is due to genomic imprinting..

Question 10

The science of comparative genomics to study human gene function is possible because much of the human genome is conserved among other closely related species.

Accepted Answer

A) True 
 B)False

Question 11

In reciprocal translocation, two homologous chromosomes exchange segments. 
_________________

Accepted Answer

A) True 
 B)False

Question 12

Match between columns
                        Premises: de la Chapelle syndrome, in which an unequal crossing over event between the X and Y chromosomes during spermatogenesis results in the transfer of part of the Y chromosome to the X chromosome, resulting in an XX male
Jacobsen syndrome, in which part of chromosome 11 is missing
Philadelphia chromosome, in which parts of chromosomes 9 and 22 switch places; strongly associated with chronic myelogenous leukemia
in some severe hemophilia A patients, a region in the factor VIII gene is reversed

Accepted Answer

The Answer of reciprocal translocation and translocation and deletion and is...

Question 13

The Human Genome Project was completed in 2012 and revealed a genomic map of 38 million SNPs.

Accepted Answer

A) True 
 B)False

Question 14

The sperm in the figure below were most likely produced by:

Accepted Answer

A)  nondisjunction. 
B)  mutation. 
C)  X-linkage. 
D)  translocation. 
E)  normal meiosis. 
A)  nondisjunction. 
B)  mutation. 
C)  X-linkage. 
D)  translocation. 
E)  normal meiosis.

Question 15

Nondisjunction during mitosis leads to:

Accepted Answer

A)  an individual with a clone of abnormal cells. 
B)  an individual with all abnormal cells. 
C)  death of the daughter cells. 
D)  nonviable sperm. 
E)  normal daughter cells. 
A)  an individual with a clone of abnormal cells. 
B)  an individual with all abnormal cells. 
C)  death of the daughter cells. 
D)  nonviable sperm. 
E)  normal daughter cells.

Question 16

Karyotyping is useful for determining:

Accepted Answer

A)  the number of chromosomes in an individual. 
B)  the presence of recessive traits. 
C)  whether or not a specific gene is missing from a chromosome. 
D)  whether or not gene mutations have occurred. 
E)  the presence of sickle cell anemia. 
A)  the number of chromosomes in an individual. 
B)  the presence of recessive traits. 
C)  whether or not a specific gene is missing from a chromosome. 
D)  whether or not gene mutations have occurred. 
E)  the presence of sickle cell anemia.

Question 17

In genomic imprinting:

Accepted Answer

A)  a gene is imprinted in the progeny, depending upon the phenotype of the parent. 
B)  the expression of a gene depends on the parental phenotype. 
C)  a gene is imprinted in the progeny, depending upon the age of the parent. 
D)  the expression of a gene in the progeny depends upon which parent the gene is inherited from. 
E)  only dominant traits are expressed. 
A)  a gene is imprinted in the progeny, depending upon the phenotype of the parent. 
B)  the expression of a gene depends on the parental phenotype. 
C)  a gene is imprinted in the progeny, depending upon the age of the parent. 
D)  the expression of a gene in the progeny depends upon which parent the gene is inherited from. 
E)  only dominant traits are expressed.

Question 18

Why are most infants with phenylketonuria usually healthy at birth?

Accepted Answer

A)  The defect causing the condition has usually been repaired by that time. 
B)  The mother breaks down phenylalanine for both herself and her fetus. 
C)  The infant can produce sufficient quantities of the enzymes needed by birth. 
D)  Phenylalanine can be completely excreted in infants. 
E)  Phenylalanine is completely metabolized in infants. 
A)  The defect causing the condition has usually been repaired by that time. 
B)  The mother breaks down phenylalanine for both herself and her fetus. 
C)  The infant can produce sufficient quantities of the enzymes needed by birth. 
D)  Phenylalanine can be completely excreted in infants. 
E)  Phenylalanine is completely metabolized in infants.

Question 19

Why has the dominant mutant allele for Huntington's disease been able to persist in human populations despite its devastating effects?

Accepted Answer

A)  It has a heterozygote advantage. 
B)  Its symptoms do not typically show until after the individual has had children. 
C)  Its effects are not expressed in heterozygous individuals. 
D)  Its effects are only expressed in homozygous recessive individuals. 
E)  Its effects are only expressed in homozygous dominant individuals. 
A)  It has a heterozygote advantage. 
B)  Its symptoms do not typically show until after the individual has had children. 
C)  Its effects are not expressed in heterozygous individuals. 
D)  Its effects are only expressed in homozygous recessive individuals. 
E)  Its effects are only expressed in homozygous dominant individuals.

Question 20

Which of the following are inborn errors of metabolism?

Accepted Answer

A)  PKU and alkaptonuria 
B)  sickle cell anemia and hemophilia 
C)  cystic fibrosis and Tay-Sachs disease 
D)  Huntington's disease and fragile X syndrome 
E)  cri-du-chat syndrome and Down syndrome 
A)  PKU and alkaptonuria 
B)  sickle cell anemia and hemophilia 
C)  cystic fibrosis and Tay-Sachs disease 
D)  Huntington's disease and fragile X syndrome 
E)  cri-du-chat syndrome and Down syndrome

Exam 16: Human Genetics and the Human Genome

Autosomal aneuploidies arise by:

A genetic counselor will know that the probability of having a child affected with a condition inherited as an autosomal recessive would be:

Preimplantation genetic diagnosis is done:

What was revealed with the completion of the Human Genome Project?

Polyploidy:

Aneuploidies describe:

Down syndrome is characterized by:

Figure 16-2 The inheritance pattern demonstrated by the pedigree in accompanying figure is:

Fragile X syndrome:

The science of comparative genomics to study human gene function is possible because much of the human genome is conserved among other closely related species.

In reciprocal translocation, two homologous chromosomes exchange segments. _________________

The Human Genome Project was completed in 2012 and revealed a genomic map of 38 million SNPs.

The sperm in the figure below were most likely produced by:

Nondisjunction during mitosis leads to:

Karyotyping is useful for determining:

In genomic imprinting:

Why are most infants with phenylketonuria usually healthy at birth?

Why has the dominant mutant allele for Huntington's disease been able to persist in human populations despite its devastating effects?

Which of the following are inborn errors of metabolism?

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

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