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 22, Problem 19P
Canavan disease, caused by homozygosity for a recessive allele, is a severe neurodegenerative syndrome usually resulting in death by the age of 18 months. The frequency of Canavan disease is particularly high in Jewish populations. In an effort to map the gene causing this condition, researchers looked at 10 SNPs (1–10) spaced at roughly 100 kb distances along chromosome 17 in five affected Jewish patients (Cases) and four unaffected Jewish individuals (Controls). In the accompanying table, each row depicts a single haplotype. (Every individual is diploid and therefore has two haplotypes, although only one is shown in the table.) G, C, A, and T represent the actual
Case | SNP1 | SNP2 | SNP3 | SNP4 | SNP5 | SNP6 | SNP7 | SNP8 | SNP9 | SNP10 |
1 | G | T | G | T | T | T | C | A | G | T |
2 | A | T | G | T | T | T | C | A | G | T |
3 | G | T | G | T | T | T | C | A | G | C |
4 | A | A | G | T | T | T | C | T | C | C |
5 | G | A | G | C | C | T | G | A | C | C |
Control | ||||||||||
6 | A | A | G | T | T | T | C | A | G | T |
7 | G | T | G | G | C | T | G | A | G | T |
8 | A | T | C | T | C | G | C | T | C | C |
9 | G | T | C | G | T | G | G | A | C | T |
a. | Does the disease-causing mutation appear to be in linkage disequilibrium with any of the SNP alleles? If so, which ones? |
b. | Where is the most likely location for the Canavan disease gene? About how long is the region to which you can ascribe the gene? |
c. | How many independent mutations of the Canavan gene are suggested by these data? |
d. | Suppose that individuals 2–9 are Ashkenazic (whose ancestors lived in the Rhine river basin of Germany and France after the Jews were expelled from Judea in 70 A.D.) while individual 1 is Sephardic (a non-Ashkenazic Jew). Would these facts provide any information about the history of the mutations causing Canavan disease? |
e. | For mapping genes by haplotype association, why is it often helpful to focus on certain subpopulations? Does this strategy have any disadvantages? |
f. | Human chromosome 17 is an autosome, so each person has two copies of each region along the chromosome. With this in mind, explain the practical difficulty in determining haplotypes. (Hint: Consider heterozygosity.) In light of this difficulty, how could the researchers determine any individual haplotype, such as any of those shown in the table? |
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Chapter 22 Solutions
Genetics: From Genes to Genomes
Ch. 22 - Choose the best matching phrase in the right...Ch. 22 - Suppose you grew genetically identical dandelion...Ch. 22 - How can each of the following be used in...Ch. 22 - Two different groups of scientists studying a rare...Ch. 22 - Which of the following statements would be true of...Ch. 22 - Studies have indicated that for pairs of twins...Ch. 22 - Prob. 7PCh. 22 - Prob. 8PCh. 22 - Table 22.2 lists concordance values for MZ and DZ...Ch. 22 - Prob. 10P
Ch. 22 - Prob. 11PCh. 22 - Two alleles at one locus produce three distinct...Ch. 22 - In a certain plant, leaf size is determined by...Ch. 22 - Compare and contrast the use of SNP genotyping: i...Ch. 22 - Explain the similarities and differences between...Ch. 22 - In Fig. 22.14c, the fw2.2 causal gene was...Ch. 22 - Among the most prevalent pathologies that afflict...Ch. 22 - Human geneticists have found the Finnish...Ch. 22 - Canavan disease, caused by homozygosity for a...Ch. 22 - In GWAS analysis, because of the existence of LD...Ch. 22 - In Fig. 22.15: a. Why do some chromosomes in the...Ch. 22 - Consider the triangle diagram shown in Fig. 22.17....Ch. 22 - Prob. 23PCh. 22 - You conduct a Case/Control study comparing the...Ch. 22 - Prob. 25PCh. 22 - ALS amyotrophic lateral sclerosis is a rare, fatal...Ch. 22 - Through GWAS explorations, scientists have...Ch. 22 - In domesticated dogs, size has a high...Ch. 22 - Suppose a GWAS investigation found a particular LD...Ch. 22 - In 2008, Time magazine named as its invention of...
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