Genetics: From Genes to Genomes
6th Edition
ISBN: 9781259700903
Author: Leland Hartwell Dr., Michael L. Goldberg Professor Dr., Janice Fischer, Leroy Hood Dr.
Publisher: McGraw-Hill Education
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Chapter 22, Problem 17P
Among the most prevalent pathologies that afflict human beings is heart disease, which can have a severe impact on quality of life and can even result in premature death. While heart disease mostly afflicts those who are older, 1% or 2% of people in their 30s, and even in their 20s, suffer from this disease. Genetic and environmental components of this disease exist. What strategy might you use to choose families to participate in a GWAS of heart disease-causing genes? Explain your reasoning.
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Explain, at the molecular level, why human genetic diseases oftenfollow a simple Mendelian pattern of inheritance, whereas mostnormal traits, such as the shape of your nose or the size of yourhead, are governed by multiple gene interactions.
How can you use this piece of information to help you explain to your friends what is the significance of mutations in the emergence of new genetic properties (alleles) that may result (or not) in new phenotypic characteristics? (Recall that not all SNPs affect phenotype.)
1.B Which of the following processes takes place in the cytoplasm?
- DNA replication
- transcription
-intron removal
-translation
-primary mRNA splicing
1.C For a DNA strand that is two nucleotides long, how many different sequences are possible?
-2
-4
-8
-16
-64
1.D Which of the following is mismatched?
A)physical expression of a trait - phenotype
B)allele that masks the expression of an alternate allele - dominant
C)identical alleles - heterozygous
D)allele whose expression can be masked by an alternate allele recessive
E)the specific alleles that an individual has - genotype
Chapter 22 Solutions
Genetics: From Genes to Genomes
Ch. 22 - Choose the best matching phrase in the right...Ch. 22 - Suppose you grew genetically identical dandelion...Ch. 22 - How can each of the following be used in...Ch. 22 - Two different groups of scientists studying a rare...Ch. 22 - Which of the following statements would be true of...Ch. 22 - Studies have indicated that for pairs of twins...Ch. 22 - Prob. 7PCh. 22 - Prob. 8PCh. 22 - Table 22.2 lists concordance values for MZ and DZ...Ch. 22 - Prob. 10P
Ch. 22 - Prob. 11PCh. 22 - Two alleles at one locus produce three distinct...Ch. 22 - In a certain plant, leaf size is determined by...Ch. 22 - Compare and contrast the use of SNP genotyping: i...Ch. 22 - Explain the similarities and differences between...Ch. 22 - In Fig. 22.14c, the fw2.2 causal gene was...Ch. 22 - Among the most prevalent pathologies that afflict...Ch. 22 - Human geneticists have found the Finnish...Ch. 22 - Canavan disease, caused by homozygosity for a...Ch. 22 - In GWAS analysis, because of the existence of LD...Ch. 22 - In Fig. 22.15: a. Why do some chromosomes in the...Ch. 22 - Consider the triangle diagram shown in Fig. 22.17....Ch. 22 - Prob. 23PCh. 22 - You conduct a Case/Control study comparing the...Ch. 22 - Prob. 25PCh. 22 - ALS amyotrophic lateral sclerosis is a rare, fatal...Ch. 22 - Through GWAS explorations, scientists have...Ch. 22 - In domesticated dogs, size has a high...Ch. 22 - Suppose a GWAS investigation found a particular LD...Ch. 22 - In 2008, Time magazine named as its invention of...
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Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.Similar questions
- In Section 12-1, Julie is concerned that she may develop breast cancer, but testing shows that she does not carry the rare high-risk BRCA1 and BRCA2 alleles. What if further testing showed that some of her aunts, her mother, and she carried a common low-risk allele for breast cancer. What would you recommend to Julie if you were her genetic counselor?arrow_forwardMary and Marcie. identical twins, go to the same internist who is also a faculty member at a major medical center. At their last visit, they each received a brochure describing a genetics research program recently launched by the hospital and its affiliated university. Researchers were asking for volunteers to fill out a questionnaire and a consent form, donate a blood sample, and have their medical records encoded and transferred to a database. The goal was to enroll 100,000 participants, and the brochure noted that over 10,000 people had already agreed to participate. The blood sample would be used to extract DNA. which would be encoded with the same number as the medical records. This DNA would be used to search for genes associated with conditions such as arthritis, diabetes, and Alzheimer disease. The idea is that researchers interested in studying arthritis would use the medical records to identify which participants have the condition and then use DNA from those individuals to find genetic similarities that are not present in participants who do not have arthritis. The genetic similarities help identify regions of the genome that contain genes associated with arthritis. These regions can then be studied in detail to identify and isolate genes that may be associated with arthritis and other inflammatory disorders. In exchange for enrolling, participants would be informed about any genetic conditions or predispositions to genetic disease they carry and would receive free access to testing. After discussing the brochure. Mary decided to enroll, but Marcie decided she did not want to do so. She said she did not want to know what diseases she may develop or which disease genes she may carry. At their next annual visit. Marys internist told her that because her questionnaire indicated that some relatives had Alzheimer disease, her DNA was used in a study to identify risk genes. He said she had been identified as a carrier of a gene that greatly increased the likelihood that she would develop Alzheimer disease. The physician told her that age was the greatest risk factor, and while it was not 100% certain she would become a victim of Alzheimer disease, the gene she carries is a factor in 2025% of all cases. Mary asked if there was anything she could do about these findings. The internist told her that exercise, controlling blood pressure and cholesterol levels, as well as participating in mentally challenging activities such as reading or playing a musical instrument may all help reduce her chances of developing this disease. Mary then asked if Marcie was going to be told about Marys genetic risk, and the internist said that he would not tell her. For the next few days. Mary was conflicted about the situation. Marcie was an Identical twin, and If Mary carried a gene predisposing her to Alzheimer disease. Marcie must carry the same gene. Marcie did not exercise with Mary, had high blood pressure, and little interest in reading or social activities. Mary did not know whether she should tell Marcie. If you were advising Mary, what would you say? Should she tell Marcie about the risk? Should she not tell her, but instead try to get Marcie to exercise and be more social? Should Mary ask their internist to talk with Marcie about this?arrow_forwardWill insurance companies be able to deny coverage or even treatment of illnesses that can now be revealed through in utero genetic testing?arrow_forward
- If all cells carry the same DNA information, how is it that different cells may carry out different functions or that particular traits be expressed at different times of an organism’s lifetime?arrow_forwardWhy are the concepts of variable expressivity, incomplete penetrance, and delayed age of onset so important in relation to genetic diseases?arrow_forwardIn humans, a dimple in the chin is a dominant characteristic controlled by a single gene.a. A man who does not have a chin dimple haschildren with a woman with a chin dimple whose mother lacked the dimple. What proportion of theirchildren would be expected to have a chin dimple?b. A man with a chin dimple and a woman who lacksthe dimple produce a child who lacks a dimple.What is the man’s genotype?c. A man with a chin dimple and a nondimpledwoman produce eight children, all having the chindimple. Can you be certain of the man’s genotype?Why or why not? What genotype is more likely,and why?arrow_forward
- What is the term for situations in which a single functional allele of a gene is unable to mask an allele that deletes the gene completely?arrow_forwardIn a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. What characteristics of the pedigree rule out inheritance of a trait encoded by a gene in the mtDNA as the cause of this disorder?arrow_forwardIn a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. Explain how a mutation in a nuclear gene might lead to deletions in mtDNA.arrow_forward
- Until very recently, the fitness of an individual getting familial retinoblastoma was zero, and if the frequency of babies with the inherited disease is 1/20000, what is the best estimate of the mutation rate of the wild type allele to the non-functional form?arrow_forwardWhich of the following is the definition of the term named Genes? a.Refers to genes that have identical alleles b.Genetic constitution of an organism c.Alternative form of a gene d.Trait expressed in the F1 generation e.Fundamental physical and functional unit of heredity f.Physical expression of traits of an organismarrow_forwardIndividuals, such as Ryan Clark and Geno Atkins, heterozygous for the sickle cell allele show effects of the allele under some circumstances (refer to the linked article and Mendelian patterns of inheritance in your text). Explain in terms of gene expression. http://www.nfl.com/news/story/0ap3000000714754/article/coleman-unsure-on-denver-game-due-to-sickle-cell-traitarrow_forward
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