Medical Genetics
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Course Introduction
Medical Genetics explores the principles of genetic inheritance and variation as they relate to human health and disease. The course covers fundamental topics such as the structure and function of genes, chromosomes, and genomes; mechanisms of genetic disorders; and the application of genetic information in clinical practice. Students learn about Mendelian and non-Mendelian inheritance patterns, genetic testing and counseling, ethical considerations, and emerging technologies in genomics. Emphasis is placed on the diagnosis, management, and prevention of genetic diseases, preparing students to integrate genetic knowledge into patient care and medical decision-making.
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Human Heredity Principles and Issues 11th Edition by Michael Cummings
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Chapter 1: A Perspective on Human Genetics
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Q1) Discuss how and why the investigative method of molecular genetics has had the greatest impact on human genetics over the last several decades.
Answer: Molecular genetics uses recombinant DNA technology to identify,isolate,and produce millions of copies of genes (clones)that can be studied in the laboratory.These methods have greatly advanced our knowledge of how genes are organized and how they work at the molecular level.
Q2) The process in which genes move from one chromosome to another is called
Answer: recombination recombining
Q3) Consider this statement: Information about citizens' genomes should be held in a centralized database by a single private company or by the government.Do you agree or disagree? Explain your reasoning.
Answer: Answers will vary.Students might discuss privacy and security issues with regard to their personal data,as well as the potential misuse of these data by corporations or the government to restrict the rights of groups based on real or imagined traits.
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Chapter 2: Cells and Cell Division
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Q1) Which biomolecule is most associated with the structure and function of cell membranes?
A) Polysaccharides
B) steroids
C) DNA
D) phospholipids
E) ATP
Answer: D
Q2) 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
Q3) Random assortment occurs between chromatids of homologous chromosome pairs.
A)True
B)False
Answer: False
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Chapter 3: Transmission of Genes from Generation to Generation
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Q1) Explain how the resulting phenotypic ratios from Mendel's dihybrid cross assisted him in framing his Second Law.
Answer: Mendel explained the results of his cross involving two traits by assuming that alleles of one gene pair segregate into gametes independently of the alleles belonging to other gene pairs,resulting in gametes containing all combinations of alleles.This second fundamental principle of genetics is called the principle of independent assortment or Mendel's Second Law.
Q2) Methylmalonic acidemia (MMA)is caused by the inability to metabolize amino acids and fats.
A)True
B)False
Answer: True
Q3) In humans,the gene for blood type has ____________________ (number)alleles and the A and B alleles are ____________________.
Answer: three; codominant
Q4) Before Mendel began his pea plant experiments he wondered if traits in offspring result from blending of parental traits or it they are inherited as ____________________ units.
Answer: discrete
Page 5
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Chapter 4: Pedigree Analysis in Human Genetics
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Q1) Approximately ____ Y-linked genes have been discovered.
A) 10
B) 20
C) 60
D) 80
E) 120
Q2) The probability that a disease phenotype will appear when a disease-related genotype is present is called ____________________.
Q3) If a man expresses an X-linked recessive trait,____.
A) all of his brothers will also express it
B) his father transmitted the trait to him
C) his father carried the trait
D) all of his sisters will also express it
E) his mother was heterozygous or homozygous for the trait
Q4) The frequency of heterozygotes for cystic fibrosis shows ethnic variations.
A)True
B)False
Q5) Color blindness is an inherited disorder passed from ____________________ to child.
Q6) Explain why color-blindness is much more common in males than in females.
Page 6
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Chapter 5: The Inheritance of Complex Traits
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Q1) The additive model for polygenic inheritance proposes that the genes controlling a trait are all on one chromosome.
A)True B)False
Q2) A measured heritability of 0.7 means that 70% of the phenotypic variation observed is due to genetic differences within the population.
A)True B)False
Q3) In twin studies,geneticists look for situations in which genetic and environmental influences are clearly ____________________.
Q4) Illustrate how the five basic human eye colors can be explained by a model using two genes (A and B),each of which has two alleles (A and a,B and b).
Q5) Refer to the figure above to explain the threshold model of complex traits.
Q6) Skin color in humans is a(n)____________________ trait.
Q7) For a complex trait that is observed less frequently in a given sex in a given family,the recurrence risk for this trait is ____________________ for future children of that sex.
Q8) The correlation coefficient for unrelated people is ____________________.
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Chapter 6: Cytogenetics - Karyotypes and Chromosome
Aberrations
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Q1) A chromosome whose centromere is placed very close to,but not at,one end is called a(n)____________________ chromosome.
Q2) Down syndrome can be caused by either trisomy 21 or a Robertsonian translocation.
A)True
B)False
Q3) Chromosomes are usually studied and photographed while they are in anaphase of mitosis.
A)True
B)False
Q4) The long arm of a chromosome is called the ____________________ arm.
Q5) The most common type of polyploidy in humans is ____.
A) trisomy
B) monosomy
C) triploidy
D) tetraploidy
E) haploidy
Q6) Free fetal DNA (ffDNA)originates from the breakdown of fetal cells and their nuclei in the ____________________.
Page 8
Q7) There are ____________________ chromosomes in a human tetraploid cell.
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Chapter 7: Development and Sex Determination
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Q1) How is the timing of gamete formation in females different than that in males?
Q2) Female gametes complete meiosis II at ____________________.
Q3) A Barr body is a(n)____.
A) activated X chromosome
B) inactivated X chromosome
C) immature trophoblast
D) immature blastocyst
E) mature blastocyst
Q4) Sperm mature and are stored in the epididymis.
A)True
B)False
Q5) Describe how the previous assumption regarding the development of sexual identity and the treatment for ambiguous genitalia has changed in recent years.
Q6) The pathway from ____ sex to ____ sex can be disrupted at several stages.
A) chromosomal; phenotypic
B) phenotypic; chromosomal
C) gonadal; chromosomal
D) gonadal; genotypic
E) phenotypic; gonadal
Q7) Explain how X inactivation can result in female mosaicism and give examples.
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Chapter 8: The Structure - Replication - and Chromosomal
Organization of DNA
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Q1) Each chromosome contains a constricted region called a(n)____________________ where sister chromatids attach.
Q2) Histones are the ____.
A) major class of proteins in chromatin
B) initiators of DNA replication
C) cause of SARS
D) genes that encode for deoxyribose
E) molecules that prevent strong hydrogen bonding
Q3) A(n)____________________ is made up of a sugar,a phosphate,and a nitrogenous base.
Q4) Proteins contain twenty different subunits ____.
A) that are the carriers of genetic information
B) arranged in a double helix attached to DNA
C) including thymine, cytosine, guanine, and adenine
D) in the form of nucleotides
E) in the form of amino acids
Q5) DNA contains two identical polynucleotide chains.
A)True
B)False
Page 10
Q6) The name of the enzyme that replicates DNA is ____________________.
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Chapter 9: Gene Expression and Gene Regulation
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Q1) Peptide bonds form between ____.
A) two amino groups
B) two carboxyl groups
C) a carboxyl group and an R group
D) an amino group and a carboxyl group
E) an amino group and an R group
Q2) A protein folded into an infectious conformation that is the cause of several disorders is called a(n)____________________.
Q3) In the process of initiation,RNA polymerase and several regulatory proteins bind to a(n)____________________ that marks the beginning of a gene.
Q4) The RNA molecule involved in both transcription and translation is ____________________.
Q5) Cytoplasmic organelles composed of two subunits,one large and one small,which are the sites of polypeptide synthesis are called ____________________.
Q6) Twenty different types of amino acids are used to make proteins.
A)True
B)False
Q7) Explain how chromatin remodeling can involve changes to DNA instead of histones.
Page 12
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Chapter 10: From Proteins to Phenotypes
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Q1) Archibald Garrod called genetic disorders of biochemical pathways
Q2) Linus Pauling and his colleagues discovered that a mutant gene involved in the synthesis of hemoglobin causes sickle cell anemia.
A)True
B)False
Q3) Genetic goitrous cretinism and alkaptonuria are metabolic disorders in the ____ pathway.
A) nucleic acid
B) thalassemia
C) phenylalanine
D) paraoxonase
E) lipid biochemical
Q4) The study of genetic variations that affect people's responses to environmental agents,including man-made chemicals,is called ____________________.
Q5) Even the replication of DNA and the expression of genes depend on the action of
Q6) A mutation that leads to the buildup of homogentisic acid causes
13
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Chapter 11: Genome Alterations - Mutation and Epigenetics
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Q1) Genetic imprinting is caused by ____.
A) insertion of a nucleotide into an exon
B) deletion of an amino acid from the mRNA strand
C) a frameshift mutation
D) epigenetic changes to DNA
E) a change in a termination codon
Q2) Beckwith-Wiedemann syndrome results from abnormalities of ____________________.
Q3) Describe how an epigenetic trait differs from a mutated trait.
Q4) An individual with cystic fibrosis carrying two different mutant alleles would be a(n)____________________ heterozygote for the disease.
Q5) Radiation in the environment that contributes to radiation exposure is called ____________________ radiation.
Q6) Mutation rates of human genes are expressed as the number of ____.
A) nucleotides substitutions per gene
B) frameshift mutations per genome
C) mutated alleles per genome
D) induced mutations per generation
E) mutated alleles per gene in each generation
Q7) Summarize the arguments both for and against irradiating foods.
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Chapter 12: Genes and Cancer
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Q1) During the M checkpoint,the cell ____.
A) proceeds to interphase and completes DNA replication
B) proceeds to G2 phase and the cell prepares to divide
C) proceeds to S phase or enters inactive G0 state
D) monitors attachment of spindle fibers to chromosomes
E) monitors completion of DNA synthesis and DNA damage
Q2) All the cells in a cancerous tumor are ____________________ directly descended from one cell.
Q3) Leukemia is a type of cancer that involves the uncontrolled division of ____________________ cells.
Q4) Viral infection is a major cause of cancer.
A)True
B)False
Q5) In the atmosphere,____________________depletion in certain regions of the globe contributes to increased levels of UV radiation exposure,which in turn is associated with increases in skin cancer frequency.
Q6) Outline the four characteristics of cancer.
Q7) One of the properties of cancer is its ability to spread,or ____________________,to other sites in the body.
Page 15
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Chapter 13: An Introduction to Genetic Technology
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Q1) In June 2001 an announcement was made that a draft sequence of the ____________________ nucleotides in the human genome had been finished.
A) 350 million
B) 990 million
C) 1.1 billion
D) 3.2 billion
E) 56 billion
Q2) Probes can come from a variety of sources,such as ____________________.
A) single-stranded RNA templates
B) histones from other species
C) artificially engineered gene sequences
D) related genes from other species
E) unrelated genes from other species
Q3) The heart of a microarray is a small piece of ____________________ on which single-stranded fragments of DNA are attached at a spot called a field.
Q4) Detecting single nucleotide polymorphisms (SNPs),fusion genes,and mRNAs for alternative splicing are three applications of ____________________.
Q5) A human ____________________ can be carried in just over 3,000 YACs.
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Chapter 14: Biotechnology and Society
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Q1) Before clotting factors from recombinant DNA became available,more than half of hemophiliacs in the U.S.acquired HIV from injection of clotting factors obtained from donated blood.
A)True
B)False
Q2) Embryonic stem cells derived from blastocysts are pluripotent,and therefore useful in stem cell research because they ________.
A) are viable under a wide range of laboratory conditions
B) do not replicate and are therefore stable long-term C) can form all cells, tissues, and organs of the human body
D) are specialized and therefore arrested in G0
E) function to replace damaged or diseased body parts in adults
Q3) The use of ____________________ or ____________________ for stem cell therapies offers alternatives to the destruction of human embryos that occurs when embryonic stem cells are harvested.
Q4) Golden rice contains a transgene that allows for increased production of vitamin A.
A)True
B)False
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Chapter 15: Genomes and Genomics
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Q1) Direct-to-consumer genetic testing is available from several companies.
A)True
B)False
Q2) Since the whole genome sequencing method eliminates the need for constructing physical and genetic maps,this method is _____.
A) superior for linkage studies
B) the only sequencing method currently used in genomics research
C) faster than the map-based sequencing method
D) more accurate than the map-based sequencing method
E) less accurate than the map-based sequencing method
Q3) A set of SNPs close together on a chromosome is called a(n)____________________.
Q4) Explain why annotation is an important step in genomic sequencing projects,in the context of the percentage of the human genome composed of coding regions.
Q5) Repeating DNA regions of at least 1000 base pairs known as ____________________ can affect gene expression.
Q6) Diet supplements that promote the growth and metabolic activity of beneficial bacteria are known as ____________________.
Q7) Genes on the same chromosome are said to show ____________________.
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Chapter 16: Reproductive Technology - Genetic Testingand Gene Therapy
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Q1) Approximately _____ of IVF pregnancies result in multiple births.
A) 5%
B) 10%
C) 20%
D) 50%
E) 75%
Q2) An individual who is at risk of passing a genetic defect onto his or her offspring would most likely undergo ____.
A) genetic testing
B) genetic screening
C) enzyme replacement therapy
D) preimplantation genetic diagnosis (PGD)
E) amniocentesis
Q3) Explain why enzyme replacement therapy cannot cure a genetic disease,and why gene therapy offers the only cure.
Q4) ____________________ is the recommended ART procedure performed on women with blocked oviducts.
Q5) Fertilization takes place in the ____________________,and the embryo grows and develops in the ____________________.
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Chapter 17: Genes and The Immune System
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Q1) ____________________ T cells secrete interleukins that activate other cells in both the cell-mediated and antibody-mediated immune responses.
Q2) The quick response of the immune system to a second infection is due to the _____,a feature of the immune system as demonstrated by the success of vaccines.
A) activation of macrophage cells
B) suppression of suppressor cells
C) T and B memory cells
D) high levels of antigen
E) new cytotoxic T cell.
Q3) Complement proteins can form a system of proteins that create a pore in the membranes of bacteria.This system is called the ____________________.
Q4) The chemicals that attract neutrophils to a site of infection are called
Q5) Disease-causing infectious agents are known as ____________________.
Q6) When species-specific MHC proteins on xenotransplants trigger a complement-mediated rejection in the recipient,a(n)____________________ results.
Q7) Explain how a mutant CC-CKR5 allele offers protection from HIV infection.
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Chapter 18: Genetics of Behavior
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Q1) The axon of one neuron is functionally connected to the dendrite of an adjacent neuron by the _____________________.
Q2) For which of the following diseases would animal models likely yield the most information?
A) alcoholism
B) schizophrenia
C) bipolar disorder
D) Huntington disease
E) nicotine addition
Q3) Research using transgenic animal models of neurodegenerative diseases not only helps scientists understand the disorders,but also may lead to _____.
A) new vaccines
B) Drosophila genome sequencing projects
C) discovery of the environmental causes of schizophrenia
D) identification of the mutant gene that causes Huntington disease
E) new drugs and treatments
Q4) Discuss the dangers of placing too much emphasis on the genetic basis of personality and behavior.
Q5) Discuss the difficulties in studying the genetics of human behavior traits
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Chapter 19: Population Genetics and Human Evolution
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Q1) The gradient distributions of alleles across continents reflect _____.
A) the delineation of new races
B) genetic drift
C) human migration patterns
D) protective alleles
E) natural selection
Q2) Because of the _____________________,traits carried by early settlers are found in a large fraction of the descendent population.
Q3) The phenotypic differences between chimps and humans is best explained by
A) the high variation in the number of different genes between the two species
B) the high number of inversion sequences
C) epistatic changes to genes
D) patterns of gene expression and regulation
E) the large amount of "junk DNA" found in chimpanzee genomes
Q4) The measure of differential survival and reproductive success is termed
Q5) Outline the assumptions made in establishing the Hardy-Weinberg law.
Q6) Do you agree with geneticists that there is no genetic basis to divide humans into races? Why or why not?
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