Pearson eText Genetic Analysis: An Integrated Approach -- Instant Access (Pearson+)
Pearson eText Genetic Analysis: An Integrated Approach -- Instant Access (Pearson+)
3rd Edition
ISBN: 9780135564172
Author: Mark Sanders, John Bowman
Publisher: PEARSON+
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Chapter 5, Problem 28P

Neurofibromatosis ( NF1 ) is an autosomal dominant disorder inherited on human chromosome 17 . Part of the analysis mapping the NF1 gene to chromosome 17 came from genetic linkage studies testing segregation of NF1 and DNA genetic markers on various chromosomes. A DNA marker with two alleles, designated 1 and 2 , is linked to NF1 . The pedigree below shows segregation of NF1 (darkened symbols) and gives genotypes for the DNA marker for each family member.

Chapter 5, Problem 28P, 5.28 Neurofibromatosis is an autosomal dominant disorder inherited on human chromosome. Part of the

a. Determine the alleles for the NF1 gene and the DNA marker gene on each chromosome carried by the fourfamily members in generation I and generation II . UseN for the dominant NF1 allele and n for the recessiveallele and assume I-1 is heterozygous for the diseaseallele ( Nn ).

b. Based on the phase of alleles on chromosomes in generation II , is there any evidence of recombination amongthe eight offspring in generation III ? Explain.

c. What is the estimated recombination frequency between the NF1 gene and the DNA marker?

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Examine the two pedigrees shown in Figure Q7–3.One results from deletion of a maternally imprinted auto-somal gene. The other pedigree results from deletion of apaternally imprinted autosomal gene. In both pedigrees,affected individuals (red symbols) are heterozygous forthe deletion. These individuals are affected because onecopy of the chromosome carries an imprinted, inactivegene, while the other carries a deletion of the gene. Dottedyellow symbols indicate individuals that carry the deletedlocus, but do not display the mutant phenotype. Whichpedigree is based on paternal imprinting and which onmaternal imprinting? Explain your answer.
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
Given the following genetic map, predict the chance an offspring would inherit the exact same haplotypes that the parents had. Assume interference in this area of the chromosome is 5%. Please report your value as a percent (%). A |-- 3 mu -- |-- 12 mu -- | Parent 1 Haplotypes: A1 B6 C14/A5 B1 C3 Parent 2 Haplotypes: A8 B3 C2 / A7 B2 C5

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Pearson eText Genetic Analysis: An Integrated Approach -- Instant Access (Pearson+)

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