10,12 Analysis of linkage involving many other families in addition to the oneillustrated for Question 8 led to the conclusion that this SNP marker is 12 cMfrom the gene responsible for Leber congenital amaurosis. Alleles of this SNPmarker are also shown in the pedigree for the unborn child in generation IV,whose future phenotype is unknown. Based on this child's genotype, andassuming that the mutation in this family causing Leber congenital amaurosis isfully penetrant, what is the probability that this child will have the trait?OO44%88%12%0%6%100% Based on its map location and analysis of mutations in candidate genes, thegene responsible for Lebers congenital amaurosis was identified as CRX, a geneencoding a transcription factor expressed in the eye. Most of the CRX mutationsfound in affected individuals are missense mutations. Given this information andyour answer to the previous question about the mode of inheritance, whatfunctional classification would you assign to these mutations?loss of functiongain of functioncannot deduce

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Description: 10,12 Analysis of linkage involving many other families in addition to the oneillustrated for Question 8 led to the conclusion that this SNP marker is 12 cMfrom the gene responsible for Leber congenital amaurosis. Alleles of this SNPmarker are also s

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Analysis of linkage involving many other families in addition to the one illustrated for Question 8 led to the conclusion that this SNP marker is 12 cM from the gene responsible for Leber congenital amaurosis. Alleles of this SNP marker are also shown in the pedigree for the unborn child in generation IV, whose future phenotype is unknown. Based on this child's genotype, and assuming that the mutation in this family causing Leber congenital amaurosis is fully penetrant, what is the probability that this child will have the trait? 44% 88% 12%

Analysis of linkage involving many other families in addition to the one illustrated for Question 8 led to the conclusion that this SNP marker is 12 cM from the gene responsible for Leber congenital amaurosis. Alleles of this SNP marker are also shown in the pedigree for the unborn child in generation IV, whose future phenotype is unknown. Based on this child's genotype, and assuming that the mutation in this family causing Leber congenital amaurosis is fully penetrant, what is the probability that this child will have the trait? 44% 88% 12%

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

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Mitochondrial Mutations

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10,12

Based on its map location and analysis of mutations in candidate genes, the
gene responsible for Lebers congenital amaurosis was identified as CRX, a gene
encoding a transcription factor expressed in the eye. Most of the CRX mutations
found in affected individuals are missense mutations. Given this information and
your answer to the previous question about the mode of inheritance, what
functional classification would you assign to these mutations?
loss of function
gain of function
cannot deduce

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