Genetics: From Genes to Genomes
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 11, Problem 4P

A recent estimate of the rate of base substitutions at SNP loci is about 1 × 10−8 per nucleotide pair per gamete.

a. Based on this estimate, about how many de novo mutations (that is, mutations not found in the genomes of your parents) are present in your own genome?
b. Where and when did these de novo mutations in your genome most likely occur?
c. It has been calculated that each sperm made in a 25-year-old man is the result on average of about 300 rounds of cell division, starting with the first mitotic division of the male zygote. In contrast, each mature oocyte found in a 5-month-old female human fetus is the result of about 25 rounds of division, starting with the first mitotic division of the female zygote. What bearing do these calculations have on the estimate of the rate of base substitutions in humans, and on your answer to part (b)?
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Susan’s grandfather was deaf, and passed down a hereditary form of deafness within Susan’s family as shown in Figure Q19–12.A. Is this mutation most likely to be dominant or recessive?B. Is it carried on an autosome or a sex chromosome? Why?C. A complete SNP analysis has been done for all of the 11 grandchildren (4 affected, and 7 unaffected). In comparing these 11 SNP results, how long a haplotype block would you expect to find around the critical gene? How might you detect it?
A normal appearing female infant was identified with a positive newborn screen, linked to chromosome 12. Few years ago, her older sibling had developed profound hypoglycemia, liver failure leading to coma, and subsequent irreparable brain damage, following a viral illness. The sibling was subsequently shown by clinical testing to have the same disorder that this female infant is screened positive for. a. What is the most likely diagnosis? b. What biomarkers would confirm this on the newborn screening process? Describe the mechanism that causes this metabolic defect.

Chapter 11 Solutions

Genetics: From Genes to Genomes

Ch. 11 - Prob. 11PCh. 11 - The previous problem raises several interesting...Ch. 11 - You want to make a recombinant DNA in which a PCR...Ch. 11 - You sequence a PCR product amplified from a...Ch. 11 - Prob. 15PCh. 11 - The trinucleotide repeat region of the Huntington...Ch. 11 - Sperm samples were taken from two men just...Ch. 11 - Prob. 18PCh. 11 - a. It is possible to perform DNA fingerprinting...Ch. 11 - On July 17, 1918, Tsar Nicholas II; his wife the...Ch. 11 - The figure that follows shows DNA fingerprint...Ch. 11 - Microarrays were used to determine the genotypes...Ch. 11 - A partial sequence of the wild-type HbA allele is...Ch. 11 - a. In Fig. 11.17b, PCR is performed to amplify...Ch. 11 - The following figure shows a partial microarray...Ch. 11 - Scientists were surprised to discover recently...Ch. 11 - The microarray shown in Problem 25 analyzes...Ch. 11 - The figure that follows shows the pedigree of a...Ch. 11 - One of the difficulties faced by human geneticists...Ch. 11 - Now consider a mating between consanguineous...Ch. 11 - The pedigree shown in Fig. 11.22 was crucial to...Ch. 11 - You have identified a SNP marker that in one large...Ch. 11 - The pedigrees indicated here were obtained with...Ch. 11 - Approximately 3 of the population carries a mutant...Ch. 11 - The drug ivacaftor has recently been developed to...Ch. 11 - In the high-throughput DNA sequencing protocol...Ch. 11 - A researcher sequences the whole exome of a...Ch. 11 - As explained in the text, the cause of many...Ch. 11 - Figure 11.26 portrayed the analysis of Miller...Ch. 11 - A research paper published in the summer of 2012...Ch. 11 - Table 11.2 and Fig. 11.27 together portray the...Ch. 11 - The human RefSeq of the entire first exon of a...Ch. 11 - Mutations in the HPRT1 gene in humans result in at...Ch. 11 - Prob. 44P
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