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 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
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
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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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- a. On the basis of this pedigree, what is the most likely mode of inheritance for the disease? Explain your reasoning. b. Based your answer to part a, give the most likely genotypes for all family members in the pedigree.arrow_forwardIn your attempts to identify a genetic basis for rheumatoid arthritis in humans, you have DNA samples from three large unrelated families in which individuals with varying severity of rheumatoid arthritis are found. From your analysis of various SNPs, you find that the same four unlinked loci consistently show a correlation with the most severe cases from all three families. Based on your observations, which of the following hypotheses best describes the genetic control of rheumatoid arthritis? ос Rheumatoid arthritis is the result of phenocopy by the environment Different genes regulate the disease in different families Rheumatoid arthritis is controlled by a single X-linked recessive trait Rheumatoid arthritis is controlled by polygenic (or quantitative) traits Rheumatoid arthritis is controlled by a single autosomal dominant traitarrow_forwardA small-scale pedigree study involving 15 families with a total of 50 children was performed to determine whether a SNP in a candidate gene is linked to a disease. The result showed that among 22 children who developed the disease, 19 belonged to non-recombinants while 3 recombinants. For the remaining 28 children, 21 were non-recombinants and 7 belonged to recombinants. A Lod (Z) score can be calculated and used to determine whether this SNP is linked to the disease. By using a very stringent threshold, which of the following conclusions is correct? O A.Z is approximately 4.03, indicating a linkage O B. Z=0.25, indicating no linkage OCZ=0.2, indicating no linkage O D.Z is approximately 4.19, indicating a linkagearrow_forward
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- The figure below represents a two-generation pedigree representing the inheritance of hereditary deafness (HD), which, has been shown to be autosomal recessive. Below the pedigree (and aligned with each person in each generation) are Southern blot gels for two RFLP loci. The BamH1 RFLP locus has alleles of either 7 kb or 5 kb and the EcoRI RFLP locus gives either a 4 kb or 3 kb EcoRI fragment. a. Determine if HD is linked to either of these markers. b. If linkage is detected between HD and one of the RFLPs, are there any recombinant offspring that you can detect? c. If linkage is detected between HD and one of the RFLPs, what is the approximate map distance between the two? Do you think that this distance will efficiently and effectively allow the RFLP to track the HD gene?arrow_forwardConsider a maize plant: Genotype C/cm ; Ac/Ac+ where cm is an unstable colorless allele caused by Ds insertion. What phenotypic ratios would be produced and in what proportions when this plant is crossed with a mutant c/c Ac+/Ac+? Assume that the Ac and c loci are unlinked, that the chromosome-breakage frequency is negligible, and the C allele encodes pigment production.arrow_forwardConsider two maize plants:a. Genotype C/cm ; Ac/Ac+, where cm is an unstableallele caused by a Ds insertionb. Genotype C/cm, where cm is an unstable allele causedby Ac insertionWhat phenotypes would be produced and in whatproportions when (1) each plant is crossed with a basepair-substitution mutant c/c and (2) the plant in part a iscrossed with the plant in part b? Assume that Ac and care unlinked, that the chromosome-breakage frequencyis negligible, and that mutant c /C is Ac+.arrow_forward
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