ND STONY BROOK UNIVERSITY LOOSELEAF GENETICS: FROM GENES TO GENOMES
6th Edition
ISBN: 9781260406092
Author: HARTWELL, Leland, HOOD, Leroy, Goldberg, Michael
Publisher: Mcgraw-hill Education/stony Brook University
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Chapter 11, Problem 7P
Mutations at simple sequence repeat (SSR) loci occur at a frequency of 1 × 10 per locus per gamete, which is much higher than the rate of base substitutions at SNP loci (whose frequency is about 1 × 10 per
| a. | What is the nature of SSR polymorphisms? |
| b. | By what mechanism are these SSR polymorphisms likely generated? |
| c. |
Copy number variants (CNVs) also mutate at a relatively high frequency. Do these mutations occur by the same or a different mechanism than that generating SSRs? |
| d. | The SSR mutation rate is much higher than the mutation rate for new SNPs. Why then have geneticists recorded more than 50 million SNP loci but only about 100,000 SSR loci in human genomes? |
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Chapter 11 Solutions
ND STONY BROOK UNIVERSITY LOOSELEAF GENETICS: FROM GENES TO GENOMES
Ch. 11 - Choose the phrase from the right column that best...Ch. 11 - Would you characterize the pattern of inheritance...Ch. 11 - Would you be more likely to find single nucleotide...Ch. 11 - A recent estimate of the rate of base...Ch. 11 - If you examine Fig. 11.5 closely, you will note...Ch. 11 - Approximately 50 million SNPs have thus far been...Ch. 11 - Mutations at simple sequence repeat SSR loci occur...Ch. 11 - Humans and gorillas last shared a common ancestor...Ch. 11 - In 2015, an international team of scientists...Ch. 11 - Using PCR, you want to amplify an approximately 1...
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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- DNA hypermethylation (an excess of methylation) is associated with many neurological disorders, including a potential role in Alzheimer's disease. a. When comparing individuals with and without Alzheimer's, which of the following 'omics techniques (exome sequencing, whole genome sequencing, transcriptomics, or proteomics) would you expect to be the most informative if your goal is to locate potentially causative methylation differences? Briefly justify your answer. b. The pdCas9-Tet1-CD enzyme (Xu et al Cell Discov. 2016) fuses an enzyme that can carry out cytosine demethylation to a mutant version of the CRISPR/Cas9 enzyme that localizes to DNA using a guide RNA in exactly the same manner as we discussed in class for standard Cas9, except that this version does not cut the genome. This demethylase enzyme can then act to remove DNA methylation proximal to where it is stably bound. Imagine that you have identified a gene that is hypermethylated specifically in patients with Alzheimer's…arrow_forwarda. What are the linkage distances between m and r, between r and t, and between m and t?b. Determine the linkage order for the three genes.?c. What is the coefficient of coincidence (see Chapter 4) in this cross? What does it signify?arrow_forwardA 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.arrow_forward
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