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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Textbook Question
Chapter 7, Problem 2P
What explanations can account for the following pedigree of a very rare trait? Be as specific as possible. How might you be able to distinguish between these explanations?
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Following the analysis of a pedigree, a genetic link at 4cM is considered between a mutation leading to a pathology and the molecular marker HUMTH01. The
study counts 14 "parental" and 3 "recombinant" individuals. We call p(theta=0.04) is the probability of obtaining such a pedigree in case of a 4cM genetic
linkage, p(theta=0.5) is the probability of obtaining such a pedigree in case of independence between the mutation and the marker, Z(theta=0.04) the value of
the Lod-score under the assumption of 4cM genetic linkage. Tick all the correct answers:
p(theta=0,04)=1,79.10E-9 and Z(theta=0,04)=0,47
p(theta=0,5)=7,18.10E-12
and Z(theta=0,04)=0,77
and Z(theta=0,04)=0,67
p(theta=0,04)=2,75.10E-10
p(theta=0,5)=6,04.10E-10 and Z(theta=0,04)=0,47
p(theta=0,5)=9,36.10E-12 and Z(theta=0,04)=1,33
p(theta =0,5)=5,82.10E-11 and Z(theta=0,04)=0,67
no correct answer
p(theta=0,04)=4,31.10E-11
p(theta=0,04)=2,01.10E-10
and Z(theta=0,04)=0,77
and Z(theta=0,04)=1,33
In a family-based genetic study for a mental disorder called marijuana dependence, a total of 50 families, each with a pair of siblings,
were recruited. The result showed that 11 families have the 1st siblings with marijuana dependence and the 2nd siblings without the
disorder, while another 9 families are opposite (i.e. the 1st siblings without the disorder but the 2nd siblings with the disorder). In
contrast, 13 families have both siblings exhibiting the disorder and another 17 families have both siblings without the disorder. What
kind of heritability can you calculate using this family study and what is the heritability value for marijuana dependence?
O A. Broad-sense heritability, approximately 38%
B. Narrow-sense heritability, approximately 38%
O. Narrow-sense heritability, approximately 76%
O D. Broad-sense heritability, approximately 76%
Consider the following pedigree. Solid symbols represent individuals affected by the trait. Assume complete penetrance and non-variable
expressivity.
II
3
4
III
1 2 3
5 6
a) what is the mode of inheritance of this trait?
b) Does the ratio of affected to unaffected offspring in generation III-1 to 1II-4 match the expected ratio for this mode of inheritance?
Explain your answer in terms of the expected ratio versus the ratio observed. Give a reason for your answer. No mark is assigned for yes or no)
Chapter 7 Solutions
Genetics: From Genes to Genomes
Ch. 7 - The following is a list of mutational changes. For...Ch. 7 - What explanations can account for the following...Ch. 7 - The DNA sequence of one strand of a gene from...Ch. 7 - Among mammals, measurements of the rate of...Ch. 7 - Over a period of several years, a large hospital...Ch. 7 - Suppose you wanted to study genes controlling the...Ch. 7 - In a genetics lab, Kim and Maria infected a sample...Ch. 7 - The results of the fluctuation test Fig. 7.5 were...Ch. 7 - The following pedigree shows the inheritance of a...Ch. 7 - Autism is a neurological disorder thought to be...
Ch. 7 - Like the yellow Labrador retrievers featured in...Ch. 7 - Remember that Balancer chromosomes prevent the...Ch. 7 - Figure 7.14 shows examples of base substitutions...Ch. 7 - Figure 7.14a shows the mutagen 5-bromouracil 5-BU,...Ch. 7 - So-called two-way mutagens can induce both a...Ch. 7 - In 1967, J. B. Jenkins treated wild-type male...Ch. 7 - When a particular mutagen identified by the Ames...Ch. 7 - Prob. 18PCh. 7 - The Ames test uses the reversion rate His- to His...Ch. 7 - The mutant FMR-1 allele that causes fragile X...Ch. 7 - The physicist Stephen Hawking, famous for his...Ch. 7 - Aflatoxin B1 is a highly mutagenic and...Ch. 7 - In human DNA, 70 of cytosine residues that are...Ch. 7 - Bromodeoxyuridine BrdU is a synthetic nucleoside...Ch. 7 - Albinism in animals is caused by recessive...Ch. 7 - a. In Figure 7.22b, what can you say about the...Ch. 7 - Imagine that you caught a female albino mouse in...Ch. 7 - Plant breeders studying genes influencing leaf...Ch. 7 - In humans, albinism is normally inherited in an...Ch. 7 - a. Seymour Benzers fine structure analysis of the...Ch. 7 - a. You have a test tube containing 5 ml of a...Ch. 7 - Prob. 32PCh. 7 - The rosy ry gene of Drosophila encodes an enzyme...Ch. 7 - Nine rII- mutants of bacteriophage T4 were used in...Ch. 7 - In a haploid yeast strain, eight recessive...Ch. 7 - In Problem 24, you learned that Bloom syndrome is...Ch. 7 - The pathway for arginine biosynthesis in...Ch. 7 - In corn snakes, the wild-type color is brown. One...Ch. 7 - In a certain species of flowering plants with a...Ch. 7 - The intermediates A, B, C, D, E, and F all occur...Ch. 7 - In each of the following cross schemes, two...Ch. 7 - Prob. 42PCh. 7 - The following complementing E. coli mutants were...Ch. 7 - In 1952, an article in the British Medical Journal...Ch. 7 - Mutations in an autosomal gene in humans cause a...Ch. 7 - Antibodies were made that recognize six proteins...Ch. 7 - Prob. 47PCh. 7 - Prob. 48PCh. 7 - In addition to the predominant adult hemoglobin,...Ch. 7 - Most mammals, including New World primates such as...Ch. 7 - Humans are normally trichromats; we have three...
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- Pedigree Analysis Is a Basic Method in Human Genetics Using the pedigree provided, answer the following questions. a. Is the proband male or female? b. Is the grandfather of the proband affected? c. How many siblings does the proband have, and where is he or she in the birth order?arrow_forwardPedigree analysis is a fundamental tool for investigating whether or not a trait is following a Mendelian pattern of inheritance. It can also be used to help identify individuals within a family who may be at risk for the trait. Adam and Sarah, a young couple of Eastern European Jewish ancestry, went to a genetic counselor because they were planning a family and wanted to know what their chances were for having a child with a genetic condition. The genetic counselor took a detailed family history from both of them and discovered several traits in their respective families. Sarahs maternal family history is suggestive of an autosomal dominant pattern of cancer predisposition to breast and ovarian cancer because of the young ages at which her mother and grandmother were diagnosed with their cancers. If a mutant allele that predisposed to breast and ovarian cancer was inherited in Sarahs family, she, her sister, and any of her own future children could be at risk for inheriting this mutation. The counselor told her that genetic testing is available that may help determine if this mutant allele is present in her family members. Adams paternal family history has a very strong pattern of early onset heart disease. An autosomal dominant condition known as familial hypercholesterolemia may be responsible for the large number of deaths from heart disease. As with hereditary breast and ovarian cancer, genetic testing is available to see if Adam carries the mutant allele. Testing will give the couple more information about the chances that their children could inherit this mutation. Adam had a first cousin who died from Tay-Sachs disease (TSD), a fatal autosomal recessive condition most commonly found in people of Eastern European Jewish descent. Because TSD is a recessively inherited disorder, both of his cousins parents must have been heterozygous carriers of the mutant allele. If that is the case, Adams father could be a carrier as well. If Adams father carries the mutant TSD allele, it is possible that Adam inherited this mutation. Because Sarah is also of Eastern European Jewish ancestry, she could also be a carrier of the gene, even though no one in her family has been affected with TSD. If Adam and Sarah are both carriers, each of their children would have a 25% chance of being afflicted with TSD. A simple blood test performed on both Sarah and Adam could determine whether they are carriers of this mutation. Would you want to know the results of the cancer, heart disease, and TSD tests if you were Sarah and Adam? Is it their responsibility as potential parents to gather this type of information before they decide to have a child?arrow_forwardPedigree analysis is a fundamental tool for investigating whether or not a trait is following a Mendelian pattern of inheritance. It can also be used to help identify individuals within a family who may be at risk for the trait. Adam and Sarah, a young couple of Eastern European Jewish ancestry, went to a genetic counselor because they were planning a family and wanted to know what their chances were for having a child with a genetic condition. The genetic counselor took a detailed family history from both of them and discovered several traits in their respective families. Sarahs maternal family history is suggestive of an autosomal dominant pattern of cancer predisposition to breast and ovarian cancer because of the young ages at which her mother and grandmother were diagnosed with their cancers. If a mutant allele that predisposed to breast and ovarian cancer was inherited in Sarahs family, she, her sister, and any of her own future children could be at risk for inheriting this mutation. The counselor told her that genetic testing is available that may help determine if this mutant allele is present in her family members. Adams paternal family history has a very strong pattern of early onset heart disease. An autosomal dominant condition known as familial hypercholesterolemia may be responsible for the large number of deaths from heart disease. As with hereditary breast and ovarian cancer, genetic testing is available to see if Adam carries the mutant allele. Testing will give the couple more information about the chances that their children could inherit this mutation. Adam had a first cousin who died from Tay-Sachs disease (TSD), a fatal autosomal recessive condition most commonly found in people of Eastern European Jewish descent. Because TSD is a recessively inherited disorder, both of his cousins parents must have been heterozygous carriers of the mutant allele. If that is the case, Adams father could be a carrier as well. If Adams father carries the mutant TSD allele, it is possible that Adam inherited this mutation. Because Sarah is also of Eastern European Jewish ancestry, she could also be a carrier of the gene, even though no one in her family has been affected with TSD. If Adam and Sarah are both carriers, each of their children would have a 25% chance of being afflicted with TSD. A simple blood test performed on both Sarah and Adam could determine whether they are carriers of this mutation. Would you decide to have a child if the test results said that you carry the mutation for breast and ovarian cancer? The heart disease mutation? The TSD mutation? The heart disease and the mutant alleles?arrow_forward
- Pedigree analysis is a fundamental tool for investigating whether or not a trait is following a Mendelian pattern of inheritance. It can also be used to help identify individuals within a family who may be at risk for the trait. Adam and Sarah, a young couple of Eastern European Jewish ancestry, went to a genetic counselor because they were planning a family and wanted to know what their chances were for having a child with a genetic condition. The genetic counselor took a detailed family history from both of them and discovered several traits in their respective families. Sarahs maternal family history is suggestive of an autosomal dominant pattern of cancer predisposition to breast and ovarian cancer because of the young ages at which her mother and grandmother were diagnosed with their cancers. If a mutant allele that predisposed to breast and ovarian cancer was inherited in Sarahs family, she, her sister, and any of her own future children could be at risk for inheriting this mutation. The counselor told her that genetic testing is available that may help determine if this mutant allele is present in her family members. Adams paternal family history has a very strong pattern of early onset heart disease. An autosomal dominant condition known as familial hypercholesterolemia may be responsible for the large number of deaths from heart disease. As with hereditary breast and ovarian cancer, genetic testing is available to see if Adam carries the mutant allele. Testing will give the couple more information about the chances that their children could inherit this mutation. Adam had a first cousin who died from Tay-Sachs disease (TSD), a fatal autosomal recessive condition most commonly found in people of Eastern European Jewish descent. Because TSD is a recessively inherited disorder, both of his cousins parents must have been heterozygous carriers of the mutant allele. If that is the case, Adams father could be a carrier as well. If Adams father carries the mutant TSD allele, it is possible that Adam inherited this mutation. Because Sarah is also of Eastern European Jewish ancestry, she could also be a carrier of the gene, even though no one in her family has been affected with TSD. If Adam and Sarah are both carriers, each of their children would have a 25% chance of being afflicted with TSD. A simple blood test performed on both Sarah and Adam could determine whether they are carriers of this mutation. If Sarah carries the mutant cancer allele and Adam carries the mutant heart disease allele, what is the chance that they would have a child who is free of both diseases? Are these good odds?arrow_forwardWhat is probability, and how is it applied in genetic analysis?arrow_forwardIn your attempts to identify a genetic basis for rheumatoid arthritis in humans, you have DNA samples from three large unrelated families in which individuals with varying severity of rheumatoid arthritis are found. From your analysis of various SNPs, you find that the same four unlinked loci consistently show a correlation with the most severe cases from all three families. Based on your observations, which of the following hypotheses best describes the genetic control of rheumatoid arthritis? ос Rheumatoid arthritis is the result of phenocopy by the environment Different genes regulate the disease in different families Rheumatoid arthritis is controlled by a single X-linked recessive trait Rheumatoid arthritis is controlled by polygenic (or quantitative) traits Rheumatoid arthritis is controlled by a single autosomal dominant traitarrow_forward
- Cystic fibrosis (CF) is an autosomal recessive trait. A three-generation pedigree is shown below for a family that carries the mutant allele for cystic fibrosis. Note that carriers are not colored in to allow you to figure out their genotypes. Normal allele = F CF mutant allele = f What is the genotype of individual #13? A) ff B) FF C) Ff D) it is impossible to tellarrow_forwardDoes a molecular marker have to be polymorphic to be useful in physical mapping studies? Does a molecular marker have to be polymorphic to be useful in linkage mapping (i.e., involving family pedigree studies or genetic crosses)? Explain why or why not.arrow_forwardWhat genetic model of an organism is the most ideal? And why is it an ideal model in genetics?arrow_forward
- You are studying four linked genes located on chromosome 2 in the fruit fly Drosophila melanogaster: adp (which contributes to obesity), b (which contributes to body color), pr (which contributes to metabolism), and vg (which contributes to wing formation). A series of crosses between pair-wise combinations of these mutations yielded the following recombination frequencies between the indicated loci: pr and adp 9% adp and b 6% pr and b 3% vg and b 10% vg and pr 7% What is the genetic distance in map units (cM) between the adp and vg loci? 16 9 6 4arrow_forwardThe DNA of every individual in the pedigree shown below has been sequenced at the causative locus. All the non-shaded individuals are wild type apart from III.1. III.1 has been proven to have the causative mutation for this autosomal dominant condition, but they exhibit no symptoms. Based on this small pedigree, what is the level of penetrance for the condition? Please give your answer as a WHOLE percentage, give the number only, no percentage symbol. Answer: The level of penetrance for the condition shown in the pedigree below is Blank 1 percent. 1:1 1:2 Il:1 I1:2 I1:3 Il:4 I1:5 I1:6 II:1 I:2 III:3 III:4 III:3 III:6 III:7 III:8 III:9 III:10 III:11 III12 II:13 III:14 IV:1 | IV:2 IV:3 IV:4 IV:5 IV:6 IV:7 IV:8 IV:9 IV:10 IV:11 IV:12 IV:13 IV:14 IV:15 IV:16 IV:17 IV:18 IV:19 V:1 V:2 V:3 V:4 V:5 V:6 V:7 V:8 V:9 V:10 V:11 V:12arrow_forwardThe DNA of every individual in the pedigree shown in image B (below) has been sequenced at the causative locus, all the non-shaded individuals are wild type apart from III.1 and III.6. III.1 and III.6 have both been proven to have the causative allele for the condition but they do not exhibit any of the phenotypic signs or symptoms. Based on this pedigree, what is the level of penetrance for the condition? Please give your answer as a percentage to one decimal place, give the number only, no percentage symbol. Given the information above I calculate the level of penetrance seen in image B to be "Blank" 1 percent.arrow_forward
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