Human Genetics Practice Questions
Course Introduction
Human Genetics explores the principles of genetic inheritance in humans, examining the molecular structure and function of genes, patterns of inheritance, chromosomal abnormalities, and the genetic basis of diseases. The course covers topics such as gene mapping, population genetics, and the impact of genomics on medicine, as well as ethical considerations in genetic testing and counseling. Students will develop an understanding of how genetic variations contribute to human diversity, susceptibility to illnesses, and responses to treatments, equipping them with foundational knowledge essential for advanced study in genetics, medicine, and biomedical research.
Recommended Textbook
Human Heredity Principles and Issues 11th Edition by Michael Cummings
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19 Chapters
1140 Verified Questions
1140 Flashcards
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Page 2
Chapter 1: A Perspective on Human Genetics
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Sample Questions
Q1) Normal white blood cells (called B cells)and cancerous B cells that cause leukemia both carry a unique surface protein called CD-19.
A)True
B)False
Answer: True
Q2) Eugenics ____.
A) has been scientifically tested and shown to be a valid theory B) is a dubious method for improving the human species through selective breeding C) assumes that human traits are much more influenced by environment than by genes D) had major social ramifications in Germany but is largely dismissed in the United States
E) was based on faulty karyotyping and DNA analysis
Answer: B
Q3) Mendel's experiments on pea plants showed that genes are passed ____________________ from generation to generation and that traits are not
Answer: intact,blended
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Chapter 2: Cells and Cell Division
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Sample Questions
Q1) Primary oocytes and spermatogonia are both haploid cells.
A)True
B)False
Answer: False
Q2) In both progeria and Werner syndrome,cells are switched from a growth to a maintenance mode,halting ____________________.
Answer: divisions cell divisions
Q3) Carbohydrates ____.
A) act as energy sources for cells
B) include fats and oils
C) are made of nucleic acids
D) act as protein builders
E) are also called steroids
Answer: A
Q4) The three parts of interphase,in order,are ____________________,____________________,and
Answer: G1; S; G2
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Chapter 3: Transmission of Genes from Generation to Generation
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Sample Questions
Q1) In crosses involving complete dominance,the F2 genotypic ratio is 1:2:1 and is expressed as a phenotypic ____________________ ratio (express as x:x).
Answer: 3:1
Q2) The first affected family member who seeks medical attention for a genetic disorder is called the ____________________.
Answer: proband
Q3) Why is it unethical to use humans in experimental genetics? Explain your reasoning. Answer: Answers will vary.Students may discuss the physical,mental,and emotional harm that may occur from experiments with unknown outcomes.
Q4) In humans,the gene for blood type has ____________________ (number)alleles and the A and B alleles are ____________________.
Answer: three; codominant
Q5) The fusion of gametes during fertilization restores the ____________________ number of chromosomes.
Answer: diploid
Q6) Pure-breeding individuals always have the ____________________ genotype. Answer: homozygous
Page 5
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Chapter 4: Pedigree Analysis in Human Genetics
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Sample Questions
Q1) Most of those affected with an autosomal dominant genetic disorder are homozygous for that trait.
A)True
B)False
Q2) If a pedigree of several generations shows only females affected by a particular trait,it cannot be a(n)____ trait.
A) autosomal recessive
B) autosomal dominant
C) Y-linked
D) X-linked recessive
E) X-linked dominant
Q3) A mutation in the gene that codes for a connective tissue protein called fibrillin causes ____________________.
Q4) Camptodactyly causes ____.
A) bent, immobile little fingers
B) breathing difficulties
C) loose joints
D) muscle deterioration
E) near-sightedness
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Chapter 5: The Inheritance of Complex Traits
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Sample Questions
Q1) Discuss Sir Francis Galton's contribution to genetics and identify the important concept that is linked to his observations.
Q2) Twin,adoption,and family studies show that obesity has a heritability that averages close to ____.
A) 0.1
B) 0.3
C) 0.5
D) 0.7
E) 0.9
Q3) Describe the relationship between single nucleotide polymorphisms and haplotypes and explain how each is used in genome-wide association studies.
Q4) Genetic testing for complex traits ____.
A) does not supply enough information to make it useful
B) reveals the phenotype of the organism
C) reveals the effects of the environment on the genome
D) reveals how many genes are involved in producing the trait
E) cannot exactly define risks
Q5) Summarize the results of performing genome-wide searches for genes that control obesity.
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Chapter 6: Cytogenetics - Karyotypes and Chromosome
Aberrations
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Sample Questions
Q1) Define the terms triploidy and autosomal trisomy and describe characteristics and consequences of each genetic disorder.
Q2) The karyotype designation for a female with X chromosome trisomy is ____________________.
Q3) Researchers have suggested that all live-born infants with Turner syndrome are actually ____________________,with both 46,XX and 45,X cells present in their bodies.
Q4) Regions at the ends of chromosomes that prevent chromosomes from sticking to each other are called ____.
A) satellites
B) telomeres
C) centromeres
D) q zones
E) p zones
Q5) Using fetal DNA from the mother's blood for prenatal testing is a noninvasive procedure.
A)True
B)False
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Q6) The long arm of a chromosome is called the ____________________ arm.
Chapter 7: Development and Sex Determination
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Sample Questions
Q1) In humans,body size,muscle mass,and patterns of fat distribution are types of ____ sex characteristics.
A) primary
B) secondary
C) tertiary
D) initial
E) mutable
Q2) The hormone oxytocin stimulates ____.
A) meiosis of oogonia
B) ovulation
C) implantation of the embryo
D) development of the fetal heart
E) contraction of uterine muscles during childbirth
Q3) Explain how X inactivation can result in female mosaicism and give examples.
Q4) The small region of an inactivated X chromosome that is not inactivated contains ____________________ homologous to those on the Y chromosome.
Q5) Most of the protein eaten by the mother during the third trimester of pregnancy is used for fetal brain and ____________________ system growth and development.
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Chapter 8: The Structure - Replication - and Chromosomal
Organization of DNA
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Sample Questions
Q1) One double-stranded DNA molecule combined with proteins form ____________________,which is visible as clumps or threads in the cell nucleus.
Q2) If one strand of DNA has the sequence 5'-CCGTAGCA-3',the complementary strand would be written as ____________________.
Q3) Sugars and phosphates are held together in a DNA molecule by a(n)____________________ bond.
Q4) DNA contains two identical polynucleotide chains.
A)True
B)False
Q5) Maurice Wilkins and Rosalind Franklin obtained X-ray diffraction photographs that indicted that DNA has a ____________________ shape with a constant diameter.
Q6) Describe the chemical composition of DNA.
Q7) In RNA,the base ____ takes the place of the base thymine.
A) deoxyribose
B) ribose
C) pentose
D) guanine
E) uracil
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Chapter 9: Gene Expression and Gene Regulation
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Sample Questions
Q1) Messenger RNA is a(n)____ of the amino acid-coding nucleotide sequence of a gene.
A) exact copy of the DNA template
B) exact copy of the tRNA template
C) double-stranded complementary copy
D) single-stranded complementary copy
E) single-stranded anti-complementary copy
Q2) At one end of a tRNA molecule is a sequence of 3 nucleotides called an anticodon that ____.
A) signals the production of a ribosome
B) signals the unwinding of the DNA coils
C) initiates the movement of mRNA out of the cell nucleus and into the cytoplasm
D) binds to its anti-complementary tRNA codon
E) binds to its complementary mRNA codon
Q3) The process of turning genes on and off is called ____________________.
Q4) mRNA is made up of introns that have been spliced together.
A)True
B)False
Q5) The RNA molecule involved in both transcription and translation is ____________________.
Page 11
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Chapter 10: From Proteins to Phenotypes
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Sample Questions
Q1) Metabolism is the sum of all _____________________ by which cells convert and utilize energy
Q2) Certain anticancer drugs change patterns of gene expression and have created a new and effective treatment for ____________________.
Q3) Identify several ways in which the study of hemoglobin variants led to an understanding of the molecular relationship among genes,proteins,and human disease.
Q4) A mutation that leads to the buildup of homogentisic acid causes ____________________.
Q5) Dr.Asbjorn Folling discovered that the blood of children affected by PKU reacted with ferric chloride to produce a green color indicating the presence of phenylalanine.
A)True B)False
Q6) A branch of genetics known as ____________________ studies genetic variations that underlie differences in the body's response to drugs,while ____________________ is focused on the development of drugs that are tailored to an individual's genetic makeup.
Q7) Summarize the metabolic process represented in the accompanying diagram.
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Chapter 11: Genome Alterations - Mutation and Epigenetics
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Sample Questions
Q1) Tris-BP was banned after the discovery that the chemical caused cancer in test animals and was ____________________ through the ____________________ by those wearing treated clothing.
Q2) An individual with cystic fibrosis carrying two different mutant alleles would be a(n)____________________ heterozygote for the disease.
Q3) PBDEs have not been linked directly to cancer in test animals. A)True B)False
Q4) ____________________ are mutations involving the increase of the number of repeat sequences in genes.
Q5) A cell that accumulates lots of mutational damage to its DNA may escape the normal controls of the cell cycle and become ____________________.
Q6) Summarize the arguments both for and against irradiating foods.
Q7) People with cystic fibrosis display a single phenotype for the disorder. A)True B)False
Q8) Individuals with ____________________ are extremely sensitive to sunlight and develop skin cancer at a rate 1000 times above normal.
Page 13
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Chapter 12: Genes and Cancer
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Sample Questions
Q1) In some families,members inherit a mutant allele that causes a(n)____________________ to cancer.
Q2) Radiation and chemotherapy are the best treatments for cancer because they are very specific and destroy only cancerous cells.
A)True
B)False
Q3) In most cases,cancer-causing mutations ____.
A) accumulate over a number of years
B) accumulate very quickly within a single cell
C) metastasize within a short time
D) must all occur on the q arm of a chromosome
E) occur during the G0 phase of the cell cycle
Q4) A(n)____________________ between chromosome 9 and chromosome 22 in chronic myelogenous leukemia results in a Philadelphia chromosome.
Q5) Hereditary nonpolyposis colon cancer (HNPCC)requires only one mutational step to initiate the formation of a cancer cell.
A)True B)False
Q6) Explain how the loss of heterozygosity (LOH)leads a cell to become cancerous.
Page 14
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Chapter 13: An Introduction to Genetic Technology
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Sample Questions
Q1) Describe the steps in the polymerase chain reaction (PCR).
Q2) Edwin Southern and his colleagues started the field of genomics. A)True B)False
Q3) A collection of clones containing all the DNA sequences carried by an individual is called a(n)____________________.
Q4) Explain why identical twins are clones.
Q5) Consumer fears and uncertainty about the safety of cloned milk and meat have prevented these products from being sold in stores even though the ____________________ has ruled that such food is safe.
Q6) As the first steps in creating recombinant DNA molecules were taking place,scientists immediately realized that modifying the genetic information in ____________________,a bacterium from the human gut,could be potentially dangerous.
Q7) To make a typical Southern blot,genomic DNA is extracted and cut into fragments and the fragments are separated by ____________________.
Q8) A technique called the ____________________ has revolutionized molecular biology because it is not as labor intensive or time consuming as DNA cloning techniques.
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Chapter 14: Biotechnology and Society
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Sample Questions
Q1) Rape (the plant from which canola oil is produced),sunflowers,and soybeans have been genetically modified to enhance production of ____________________ fatty acids.
Q2) Animal genes transferred into plant cells cannot be transcribed and translated into proteins.
A)True
B)False
Q3) STR alleles differ by the number of copies of a set of nucleotides,such as AGA.
A)True
B)False
Q4) A bone marrow transplant is an example of a stem cell therapy using adult stem cells.
A)True
B)False
Q5) The most common use of DNA evidence in civil legal proceedings is ____________________.
Q6) More than ____________________ percent of processed foods in supermarkets contain ingredients from transgenic crops.
Q7) Why is the term GMO a misnomer for transgenic organisms?
Q8) Summarize the concerns related to the use of transgenic crops.
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Chapter 15: Genomes and Genomics
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Sample Questions
Q1) In 2005,professional basketball player Eddy Curry was traded by the Chicago Bulls to the New York Knicks for refusing to submit to a DNA test associated with a cardiac condition.If this had occurred after 2008,the ____ may have protected him from losing his position with the Bulls.
A) National Organ Transplant Act
B) HapMap Project
C) Human Microbiome Project
D) Genetic Information Nondiscrimination Act
E) Ethical, Legal, and Social Implications program
Q2) Genes on the same chromosome are said to show ____________________.
Q3) Repeating DNA regions of at least 1000 base pairs known as ____________________ can affect gene expression.
Q4) A set of SNPs close together on a chromosome is called a(n)____________________.
Q5) The genomes of all the microbes present in or on the human body are collectively known as the proteome.
A)True
B)False
Q6) The private attempt to sequence the human genome,coordinated by Celera Corporation,used a method called ____________________ cloning.
Page 17
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Chapter 16: Reproductive Technology - Genetic Testingand Gene Therapy
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Sample Questions
Q1) ____________________,one of the earliest methods of ART,was developed primarily to overcome problems with male infertility.
Q2) The technique of ____ is a form of genetic disorder therapy in which a patient's defective protein is artificially provided.
A) PGD
B) exon splicing
C) exon skipping
D) intron skipping
E) enzyme replacement therapy
Q3) Early failures of gene therapy included two children who developed ____________________ after receiving gene therapy for X-linked SCID.
Q4) Intracytoplasmic sperm injection (ICSI)is used by couples in which the _____.
A) female has blocked oviducts
B) female has very irregular ovulation
C) female is approaching menopause
D) source of sperm is a sperm bank
E) male is infertile
Q5) ____________________ is the recommended ART procedure performed on women with blocked oviducts.
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Chapter 17: Genes and The Immune System
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Sample Questions
Q1) How many HLA haplotypes does each human have?
A) one
B) two
C) three
D) four
E) five
Q2) The major obstacle to the use of xenotransplants is _____.
A) the lack of human donors
B) finding nonhumans with similar-sized organs
C) resistance from opponents of genetically modified animals
D) organ rejection by recipients
E) the possibility of viral transfer from nonhuman primates to human patients
Q3) The use of organs harvested from animals for human transplants is called
Q4) Of the four types of T cells,only the ____________________ T cells destroy infected body cells.
Q5) The chemicals that attract neutrophils to a site of infection are called
Q6) Disease-causing infectious agents are known as ____________________.
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Q7) How can so many antibody molecules be made in a relatively short period of time?
Chapter 18: Genetics of Behavior
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Sample Questions
Q1) Schizophrenia and bipolar disorder are caused by _____.
A) one gene, plus environmental triggers
B) the same gene
C) many genes, plus environmental triggers
D) copy number variants, without environmental triggers
E) the same mutations that cause autism spectrum disorders
Q2) Someone who steps on a sharp nail will quickly lift their foot away. This quick reaction is known as a(n)_____________________.
Q3) Explain how genetic mutations that cause neurodegenerative disorders such as Huntington disease and Alzheimer disease can also cause abnormal behavior.
Q4) The greater the polyglutamine expansion in the huntingtin gene (greater than 35 CAG trinucleotide repeats),the greater the chance for developing Huntington disease.
A)True
B)False
Q5) All psychiatric illnesses studied to date have been shown to result from a mutation in a single gene.
A)True
B)False
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Chapter 19: Population Genetics and Human Evolution
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Sample Questions
Q1) According to the theory of evolution,those best adapted to the environment will
A) survive and reproduce
B) not survive
C) produce offspring that are genetically identical to the parents
D) have lower fertility rates
E) have fewer offspring on average
Q2) Hemophilia is an X-linked trait caused by the allele h. About 1 in 10,000 males (0.0001)has hemophilia. The frequency of the h allele in males is therefore
Q3) There is significantly more genetic variation between human populations than within them.
A)True
B)False
Q4) Hardy and Weinberg showed that the allele frequencies in a non-evolving population change with successive generations.
A)True
B)False
Q5) Outline the assumptions made in establishing the Hardy-Weinberg law.
Q6) On average,humans differ by _____________________% of their genomic sequences.
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