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Biology of Human Disease explores the biological principles underlying the onset, progression, and treatment of diseases that affect humans. This course examines the mechanisms of disease at the molecular, cellular, and organ system levels, focusing on both infectious and non-infectious conditions. Students will gain an understanding of pathophysiological processes, genetic factors, and immune responses, while also considering the impact of lifestyle and environment on health. Through case studies and current scientific research, the course aims to provide a comprehensive understanding of how diseases develop and the strategies used for diagnosis, prevention, and therapy.
Recommended Textbook
Human Heredity Principles and Issues 11th Edition by Michael Cummings
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Q1) A trait is a(n)____________________ property of an organism.
Answer: observable
Q2) In 1927,the U.S.Supreme Court upheld the right of states to use ____________________ as a means of preventing reproduction by those deemed "unfit."
Answer: sterilization eugenic sterilization
Q3) Transmission genetics ____.
A) studies the pattern of inheritance as traits are passed from generation to generation B) reconstructs the pattern of inheritance associated with a trait as it passes through several generations
C) maps genes to study chromosome structure and abnormalities in chromosome numbers and organization
D) uses recombinant DNA technology to identify, isolate, and produce millions of copies of genes that can be studied in the laboratory
E) sequences the complete human genome
Answer: A
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Q1) The four macromolecules making up our cells allow for the same structure and function across all cells in the body.
A)True
B)False
Answer: False
Q2) Proteins function ____.
A) as energy carriers
B) as the 'backbone' of the DNA molecule
C) as component parts of enzymes
D) in energy storage within the cell nucleus
E) in transmission of genetic information
Answer: C
Q3) Ribosomes are organelles that are involved in ____.
A) plasma membrane selectivity
B) cellular energy production
C) protein synthesis
D) transport of materials
E) DNA replication
Answer: C
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Q1) Pedigrees ____.
A) are usually constructed using the phenotypic information of one generation
B) cannot determine whether a trait has a dominant or recessive pattern
C) use squares to represent females and circles to represent males on their diagrams
D) are not useful in deducing the genotypes of parents
E) provide information on the patterns of inheritance of a trait
Answer: E
Q2) Explain Mendel's conclusion that traits passed from parents to offspring are not blended,but are instead inherited as if they are separate units.
Answer: Mendel based his conclusion on several observations.Only one of the parental traits was present in the offspring (F1).The trait not present in the offspring (F1)reappeared in about 25% of the second offspring generation (F2).In all crosses,it did not matter which parental plant contributed the pollen; the results were always the same.He,therefore,concluded that traits remained unchanged,even though they might not be expressed in a specific generation.Instead,he concluded that traits were inherited as if they were separate units that did not blend together.
Q3) Pure-breeding individuals always have the ____________________ genotype.
Answer: homozygous
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Q1) Explain why color-blindness is much more common in males than in females.
Q2) Individuals with Marfan syndrome experience an eyesight problem called ____________________.
Q3) If a man expresses an X-linked recessive trait,his ____________________ was either homozygous or heterozygous for the trait.
Q4) Mucus production that blocks ducts of certain glands and lung passages is a symptom of ____________________.
Q5) The initial circumstance that led some to believe that Abraham Lincoln had Marfan syndrome was that ____ had the disease.
A) one of Lincoln's descendants
B) Lincoln's sister
C) a descendent of Lincoln's great-great-grandfather
D) DNA analysis on Lincoln's skull determined that he
E) Photographs of Lincoln provided physical evidence that he
Q6) If both parents are homozygous for a disease-causing recessive gene,____________________ of their children will be affected.
Q7) The probability that a disease phenotype will appear when a disease-related genotype is present is called ____________________.
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Q1) The contributions of genes and environmental factors are strictly defined during the study of complex traits.
A)True
B)False
Q2) The correlation coefficient for unrelated people is ____________________.
Q3) Single nucleotide polymorphisms (SNPs)are organized into blocks called ____ and are inherited together.
A) haplotypes
B) chromosome assemblies
C) DNA assemblies
D) multifactorial genes
E) threshold groups
Q4) Mutations of some genes for human height result in ____________________.
Q5) Dizygotic twins are no more or less genetically similar than are other pairs of ____________________.
Q6) Scientists are researching how much influence ____________________ has on the differences in IQ among population groups often classified as different races.
Q7) Summarize the results of one of the first investigations of the genetics of skin color.
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Q1) Trisomy 21 is the only autosomal trisomy that allows survival into adulthood.
A)True
B)False
Q2) When constructing a karyotype,the chromosome images are arranged in pairs according to ____________________ and ____________________.
A) size; telomere location
B) size; centromere location
C) banding pattern; centromere location
D) banding pattern; telomere location
E) size; banding pattern
Q3) The karyotype designation for an infant with a deletion in the short arm of chromosome 5 (cri du chat syndrome)is ____________________
Q4) Explain how to determine if a nondisjunction occurred during meiosis I or meiosis II and what the genetic consequences are for the resulting fertilized gametes.
Q5) Free fetal DNA (ffDNA)originates from the breakdown of fetal cells and their nuclei in the ____________________.
Q6) The karyotype designation for a female with X chromosome trisomy is
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Q1) The process of ____________________ equalizes the dosage of functional genes carried on the X chromosome in males and females.
Q2) An embryo that is composed of a hollow ball of cells is called a blastocyst.
A)True
B)False
Q3) Pattern baldness is a(n)____ trait.
A) X-linked
B) Y-linked
C) sex-linked
D) sex-limited
E) sex-influenced
Q4) The part of the male reproductive system where sperm mature is known as the ____.
A) epididymis
B) bulbourethral gland
C) testis
D) seminal vesicle
E) ejaculatory duct
Q5) Explain how X inactivation can result in female mosaicism and give examples.
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Q6) How is the timing of gamete formation in females different than that in males?
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Q1) Outline three properties of genes for which the Watson-Crick model offers an explanation.
Q2) Describe the organization of a human chromosome.
Q3) Summarize Fredrick Griffith's,Oswald Avery's,and others' experimental search for a treatment for pneumonia.
Q4) Explain how a telomerase inhibitor might be an effective cancer treatment.
Q5) The woman scientist who made a major contribution to the discovery of the structure of DNA was _____________________.
Q6) The search for a(n)____ treatment led to the discovery that DNA carries genetic information.
A) pneumonia
B) AIDS
C) tuberculosis
D) influenza
E) SARS
Q7) DNA contains two identical polynucleotide chains.
A)True
B)False
Q8) Describe the chemical composition of DNA. Page 10
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Q1) Describe the three steps of translation.
Q2) The RNA molecule involved in both transcription and translation is ____________________.
Q3) Explain why vegetarians and vegans might be deficient in some amino acids.
Q4) Amino acids that cannot be manufactured by the human body are called ____________________.
Q5) A mechanism of gene regulation that controls the amount of mRNA available for translation is called ____________________.
Q6) Tetracyclines interfere with ____.
A) DNA replication
B) initiation of transcription
C) initiation of translation
D) the process of protein folding
E) transport of proteins to the Golgi complex
Q7) During processing in the nucleus,a(n)____________________ is added to the 3' end of mRNA molecules.
Q8) Explain how the composition and distribution of codons among living organisms provide evidence for evolution from a common ancestor.
Q9) Elaborate on the idea that proteins are the workhorse molecules of the cell.
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Q1) Using breast cancer as an example,describe the importance of understanding the interactions of an individual's genotype with therapeutic drugs when treating patients
Q2) Metabolism is the sum of all _____________________ by which cells convert and utilize energy
Q3) The simplest sugars are called ____________________,and two of these sugars linked together form a(n)____________________.
Q4) In genetic goitrous cretinism,the phenotype is caused by accumulation of thyroid hormone and its breakdown products.
A)True
B)False
Q5) Human diet must be varied enough to provide ____________________ of the 20 amino acids from the foods we eat.
Q6) Even the replication of DNA and the expression of genes depend on the action of
Q7) A mutation that leads to the buildup of homogentisic acid causes
Q8) Archibald Garrod called genetic disorders of biochemical pathways
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Q1) Control systems in the cell can induce cell suicide,or apoptosis,in cells with excessive DNA damage.
A)True
B)False
Q2) 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
Q3) Distinguish between sense and nonsense mutations and describe the characteristics of a protein affected by each type of mutation.
Q4) The ability of DNA polymerase to repair its own nucleotide mismatches is called ____________________.
Q5) A form of mutation associated with the expansion in copy number of a nucleotide triplet in or near a gene is called a(n)____________________.
Q6) An individual with cystic fibrosis carrying two different mutant alleles would be a(n)____________________ heterozygote for the disease.
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Q1) When MSH2 and MLH1 are inactivated by mutation,DNA repair is defective and ____________________ mutation rates increase by at least 100-fold.
Q2) A reciprocal translocation between two chromosomes can result in the formation of a(n)____________________ gene.
Q3) A proto-oncogene ____.
A) always becomes cancerous
B) causes cancer
C) encodes tumor-suppressing proteins
D) repairs DNA
E) regulates cell division
Q4) List four lines of evidence that support a link between cancer and genetics.Describe the ultimate cause of cancer and how an individual's life-style might reduce the chances of developing cancer.
Q5) 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
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Q1) Nuclear transfer is a preferred method of cloning over embryo splitting because it ____.
A) is less technical B) is more natural C) results in a larger number of cloned offspring D) produces both male and female offspring from the same clone E) uses haploid nuclei
Q2) After a restriction enzyme cuts DNA into fragments and the fragments pair with complementary bases,the enzyme ____________________ is used to seal the gaps in the phosphate backbone.
Q3) Genes isolated from mice or rats can often be used as ____________________ to identify and isolate the human version of the same gene.
Q4) Although artificial selection may seem slow and unreliable,____________________ observed that after only a few generations,breeders produced many varieties of pigeons and minks.
Q5) Describe the steps in the polymerase chain reaction (PCR).
Q6) A collection of clones containing all the DNA sequences carried by an individual is called a(n)____________________.
Q7) List some of the applications of DNA sequencing.
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Q1) STR alleles differ by the number of copies of a set of nucleotides,such as AGA.
A)True
B)False
Q2) The first organisms used in recombinant DNA technology were ____________________.
Q3) To create a mouse model of the human disease Hemophilia A,in which a nonfunctional factor VIII protein results in a blood clotting deficiency,_____.
A) a cloned mutant FVIII gene is inserted into fertilized mouse eggs, which are then transferred to a foster mother for gestation and birth
B) a cloned normal FVIII gene is inserted into fertilized mouse eggs, which are then transferred to a foster mother for gestation and birth
C) mice with similar, naturally occurring, clotting deficiencies are cloned
D) embryonic stem cells are harvested from mouse blastocysts, and grown in the lab to produce blood cells for experimental research
E) adult mice are infected with bacteria that contain a copy of a mutant human FVIII gene
Q4) Summarize the concerns related to the use of transgenic crops.
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Q1) Individuals suffering from Crohn disease or irritable bowel syndrome may benefit from ____________________.
Q2) Linkage between two genes can be determined by studying inherited traits in multi-generational families; however,when this data is not available,the probability of linkage is estimated by the ____________________.
Q3) The number of proteins produced by the human genome is significantly less than the number of genes it contains.
A)True
B)False
Q4) The private attempt to sequence the human genome,coordinated by Celera Corporation,used a method called ____________________ cloning.
Q5) How is the field of bioinformatics indispensable for genomic research?
Q6) Repeating DNA regions of at least 1000 base pairs known as ____________________ can affect gene expression.
Q7) Discuss the relationship between genetic distance and physical distance between two linked genes.
Q8) Genes on the same chromosome are said to show ____________________.
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Q9) A set of SNPs close together on a chromosome is called a(n)____________________.

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Q1) Recent successes in gene therapy are attributed to the _____.
A) focus on germ-line gene therapy, rather than somatic gene therapy
B) development of improved vectors
C) sequencing of the human genome
D) improvements in prenatal testing techniques
E) improvements in gene doping
Q2) Which scenario describes a situation for which genetic counseling is recommended?
A) Couples who have no family history of genetic disorders
B) Women under age 35 who plan to become pregnant
C) Couples who already have a child with a birth defect
D) Couples who have undergone IVF
E) Women who have had one miscarriage, and no other pregnancies
Q3) Fertilization takes place in the ____________________,and the embryo grows and develops in the ____________________.
Q4) Should legal restrictions limit the application of gene therapy to only correcting genetic defects? Should enhancement gene therapy and/or gene doping be illegal? Do you think such a law would be enforceable? Explain your reasoning.
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Q5) The condition of having no sperm in the semen is called ____________________.
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Q1) The _____ of an antibody molecule functions to recognize and bind to a specific antigen.
A) antigen-antibody complex
B) antigen-binding site
C) light chain
D) heavy chain
E) immunoglobulin motif
Q2) The huge diversity of antibody molecules is generated by the shuffling of gene segments in T cells.
A)True
B)False
Q3) When species-specific MHC proteins on xenotransplants trigger a complement-mediated rejection in the recipient,a(n)____________________ results.
Q4) ____________________,such as ulcerative colitis and Crohn disease,develop when bacteria are able to breach the barrier between the digestive system and the body.
Q5) Do you agree with the strategy of xenotransplantation to alleviate the shortage of donated human organs? Why or why not?
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Q6) Summarize the steps involved with the inflammatory response.
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Q1) The finding that mutations in synapse genes are associated with many genetic disorders that have a behavioral component suggests that _____.
A) individuals with these mutations lack synapses
B) individuals with these mutations lack neurotransmitters
C) malfunctions in presynaptic neurons cause abnormal behavior
D) malfunctioning synapses are associated with abnormal behavior
E) behavior disorders are attributable to environmental factors
Q2) When a nerve impulse travels from neuron 1 to neuron 2,neuron 1 is known as the _____.
A) postsynaptic neuron
B) presynaptic neuron
C) synapse
D) gated channel
E) dendrite
Q3) If a psychiatric condition displays 15% concordance in monozygotic twins,and 8% concordance in dizygotic twins,then genetics plays a major role in this trait.
A)True
B)False
Q4) Discuss the difficulties in studying the genetics of human behavior traits
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Q1) According to genetic evidence,the migration of H.sapiens out of Africa replaced other human populations,including Neanderthals and H.erectus,leading to their extinction.
A)True
B)False
Q2) The frequency of a certain genotype in a population is called _____________________.
Q3) In a hypothetical population of 1,000 people,there is a hypothetical trait called pink toe.People who are homozygous dominant have red toes,those who are homozygous recessive have white toes,and those who are heterozygous have pink toes.If 400 people have red toes,the number of people with pink toes is _____________________.
Q4) A predictable effect of genetic drift in a small population is an increase in _____.
A) mutations
B) dominant alleles
C) recessive alleles
D) genetic variation
E) homozygosity
Q5) Outline the assumptions made in establishing the Hardy-Weinberg law.
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