Genetics: From Genes to Genomes, 5th edition
5th Edition
ISBN: 9780073525310
Author: Leland H. Hartwell, Michael L. Goldberg, Janice A. Fischer, Leroy Hood, Charles F. Aquadro
Publisher: McGraw-Hill Education
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Chapter 10, Problem 34P
A researcher sequences the whole exome of a patient suffering from Usher syndrome, a rare autosomal recessive condition that is nonetheless the leading cause for simultaneous deafness and blindness. The exome sequence does not show homozygosity for any polymorphisms different from the human RefSeq.
| a. How could the researcher examine the data already gathered to try to find the disease gene, assuming the sequence is accurate? |
| b. If the attempt described in part (a) was unsuccessful, the researcher might contemplate sequencing the patient’s whole genome. What are the potential pitfalls of this strategy? |
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Chapter 10 Solutions
Genetics: From Genes to Genomes, 5th edition
Ch. 10 - Choose the phrase from the right column that best...Ch. 10 - Would you characterize the pattern of inheritance...Ch. 10 - Would you be more likely to find single nucleotide...Ch. 10 - A recent estimate of the rate of base...Ch. 10 - If you examine Fig. 10.5 on p. 344 closely, you...Ch. 10 - Approximately 50 million SNPs have thus far been...Ch. 10 - Mutations at simple sequence repeat SSR loci occur...Ch. 10 - Humans and gorillas last shared a common ancestor...Ch. 10 - Using PCR, you want to amplify an approximately 1...Ch. 10 - Prob. 10P
Ch. 10 - Prob. 11PCh. 10 - Prob. 12PCh. 10 - shows three different sequences of the same...Ch. 10 - The trinucleotide repeat region of the Huntington...Ch. 10 - Prob. 15PCh. 10 - Prob. 16PCh. 10 - a. It is possible to perform DNA fingerprinting...Ch. 10 - On July 17, 1918, Tsar Nicholas II; his wife the...Ch. 10 - The figure below shows DNA fingerprint analysis of...Ch. 10 - Microarrays were used to determine the genotypes...Ch. 10 - A partial sequence of the wild-type HbA allele is...Ch. 10 - Prob. 22PCh. 10 - Prob. 23PCh. 10 - The microarray shown at the top of this page...Ch. 10 - The figure below shows the pedigree of a family in...Ch. 10 - Prob. 26PCh. 10 - Now consider a mating between consanguineous...Ch. 10 - The pedigree shown in Fig. 10.22 on p.360 was...Ch. 10 - You have identified a SNP marker that in one large...Ch. 10 - The pedigrees indicated here were obtained with...Ch. 10 - Approximately 3 of the population carries a mutant...Ch. 10 - The drug ivacaftor has recently been developed to...Ch. 10 - In the high-throughput DNA sequencing protocol...Ch. 10 - A researcher sequences the whole exome of a...Ch. 10 - As explained in the text, the cause of many...Ch. 10 - Figure 10.26 on p. 366 portrayed the analysis of...Ch. 10 - Prob. 37PCh. 10 - Table 10.2 p. 367 and Fig. 10.27 p. 367 together...Ch. 10 - The human RefSeq of the entire first exon of a...
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