EBK GENETICS: FROM GENES TO GENOMES
6th Edition
ISBN: 9781260041255
Author: HARTWELL
Publisher: MCGRAW HILL BOOK COMPANY
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Chapter 11, Problem 28P
The figure that follows shows the pedigree of a family in which a completely penetrant, autosomal dominant disease is transmitted through three generations, together with microarray analysis of each individual for a biallelic SNP locus (the alleles are C and T).
| a. | Do the data suggest the existence of genetic linkage between the SNP locus and the disease locus? If so, what is the estimated genetic distance between the two loci? |
| b. | Calculate the maximum Lod score for linkage between the SNP and the disease locus for this pedigree. What does this value of the Lod score signify? |
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Consider the first category of test-cross offspring shown in figure 8.2 (+b, LS). Consider also that the parents of the heterozygous female flies in the test cross had the following genotypes: bb, SS, and +, LL.
A. What would be the physical phenotype of these flies?
B. If PC was conducted with the DNA of one of these flies using the primers for the molecular marker, what would be the appearance of the bands on an electrophoresis gel with the PC products?
C. If the gene for black body and the locus for the molecular marker (L long or S short) were unlinked, what proportion of the test-cross progeny would be black flies that are heterozygous for the molecular marker? What proportion would be flies with normal body color, which are homozygous for one form of the molecular marker?
D. If the gene for black body and the locus for the molecular marker were linked, how would the proportion of flies be different?
The DNA of every individual in the pedigree shown in image B (below) has been sequenced at the causative locus, all the non-shaded individuals are wild type apart from III.1 and III.6. III.1 and III.6 have both been proven to have the causative allele for the condition but they do not exhibit any of the phenotypic signs or symptoms. Based on this pedigree, what is the level of penetrance for the condition? Please give your answer as a percentage to one decimal place, give the number only, no percentage symbol.
Given the information above I calculate the level of penetrance seen in image B to be "Blank" 1 percent.
The DNA of every individual in the pedigree shown in image B (below) has been sequenced at the causative locus, all the non-
shaded individuals are wild type apart from III.1 and III.6. III.1 and III.6 have both been proven to have the causative allele for
the condition but they do not exhibit any of the phenotypic signs or symptoms. Based on this pedigree, what is the level of
penetrance for the condition? Please give your answer as a percentage to one decimal place, give the number only, no
percentage symbol.
ANSWER: Given the information above I calculate the level of penetrance seen in image B to be Blank 1 percent.
A
KEY
Homozygous Homozygous Heterozygous Heterozygous Wild Type
Male
Female Male
Female
Male
Note: Completely red symbol denotes an
individual exhibiting the phenotype of interest
CI
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III
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V
1/4
1/2
1/2
1/2
1/2
Wild Type
Female
1/4
1/2
Affected
Known carrier
Affected female
Normal female
Affected male
Normal male
D
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Chapter 11 Solutions
EBK 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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- 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?arrow_forwardThe DNA of every individual in the pedigree shown below has been sequenced at the causative locus. All the non-shaded individuals are wild type apart from III.1. III.1 has been proven to have the causative mutation for this autosomal dominant condition, but they exhibit no symptoms. Based on this small pedigree, what is the level of penetrance for the condition? Please give your answer as a WHOLE percentage, give the number only, no percentage symbol. Answer: The level of penetrance for the condition shown in the pedigree below is Blank 1 percent. 1:1 1:2 Il:1 I1:2 I1:3 Il:4 I1:5 I1:6 II:1 I:2 III:3 III:4 III:3 III:6 III:7 III:8 III:9 III:10 III:11 III12 II:13 III:14 IV:1 | IV:2 IV:3 IV:4 IV:5 IV:6 IV:7 IV:8 IV:9 IV:10 IV:11 IV:12 IV:13 IV:14 IV:15 IV:16 IV:17 IV:18 IV:19 V:1 V:2 V:3 V:4 V:5 V:6 V:7 V:8 V:9 V:10 V:11 V:12arrow_forward3) You have identified an interesting mutant in gene P. Using a Punnett square, demonstrate the cross you perform to determine if it is a dominant or recessive mutation compared to the WT gene P allele. Write the expected ratios for either scenario. 4) You have determined the mutation is dominant when compared to the WT allele. Briefly describe a technique you could use to determine if expression levels of gene P have been altered in this mutant. 5) You have determined the expression level of gene P has increased. What class/type of mutation would cause this?arrow_forward
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