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 37P
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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A researcher sequences the whole exome of a patientsuffering from Usher syndrome, a rare autosomal recessive condition that is nonetheless the leading causefor simultaneous deafness and blindness. The exomesequence does not show homozygosity for any polymorphisms different from the human RefSeq.a. How could the researcher examine the data alreadygathered to try to find the disease gene, assumingthe sequence is accurate?b. If the attempt described in part (a) was unsuccessful, the researcher might contemplate sequencingthe patient’s whole genome. What are the potentialpitfalls of this strategy?
Suppose that you could undergo genetic testing at age 18 for susceptibility to a genetic disease that would not appear until middle age and has no available treatment. a. What would be some of the possible reasons for having such a genetic test and some of the possible reasons for not having the test? b. Would you personally want to be tested? Explain your reasoning.
a. What type of nucleic acid and from what species would the scientist use to begin
construction of her genomic DNA library?
b. From what tissue would she isolate this nucleic acid?
c. What type of reagent would the scientist use to cut the genome into appropriately sized
fragments?
d. What size nucleic acid fragments would one aim to prepare for the library construction
so as to to avoid having to screen an overwhelming number of clones?
e. Into what vector would the scientist ligate her genomic DNA fragments?
f. What organism would the scientist use to propagate the clones of her genomic DNA
library?
g. From the information given in the problem determine what probe could be used to
screen the scientist's library to find her clone of interest ?
Chapter 11 Solutions
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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