Genetics: From Genes To Genomes (6th International Edition)
6th Edition
ISBN: 9781260041217
Author: Leland Hartwell Dr., ? Michael L. Goldberg Professor Dr., ? Janice Fischer, ? Leroy Hood Dr.
Publisher: Mcgraw-Hill
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Chapter 11, Problem 32P
You have identified a SNP marker that in one large family shows no recombination with the locus causing a rare hereditary autosomal dominant disease. Furthermore, you discover that all afflicted individuals in the family have a G base at this SNP on their mutant chromosomes, while all wild-type chromosomes have a T base at this SNP. You would like to think that you have discovered the disease locus and the causative mutation but realize you need to consider other possibilities.
| a. | What is another possible interpretation of the results? |
| b. | How would you go about obtaining additional genetic information that could support or eliminate your hypothesis that the base-pair difference is responsible for the disease? Problems 33 and 34 show that you can make predictions about a child’s genotype by genotyping linked markers even if you don’t directly examine the disease-causing mutation. This method can be valuable for diseases showing high allelic heterogeneity if the linkage is extremely tight. |
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The 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:12
To detect the CAG repeat expansion with a particular gene where 30 repeats in Normal changes to 250 repeats in a certain disease, how can we diagnose the condition.
How To identify Y chromosome microdeletion ( which involves the deletion of AZF locus) using conventional karyotyping? If not then why.
How will you diagnose a chromosomal translocation event?
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.
Chapter 11 Solutions
Genetics: From Genes To Genomes (6th International Edition)
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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- 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 || III IV 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 ●●●arrow_forwardFamilial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?arrow_forwardSuppose, you want to detect the CAG repeat expansion within a particular gene (30 repeats in normal changes to 250 repeats in disease) in a certain disease. How will you diagnose this disease condition? Can you identify Y chromosome microdeletion (which involves the deletion of AZF locus) using conventional karyotyping? If not, then why? How will you diagnose a chromosomal translocation event? (Discuss any one of the processes)arrow_forward
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