Genetic Analysis: An Integrated Approach (2nd Edition)
Genetic Analysis: An Integrated Approach (2nd Edition)
2nd Edition
ISBN: 9780321948908
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
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Chapter 15, Problem 15P

A hereditary disease is inherited as an autosomalrecessive trait. The wild - type allele of the disease geneproduces a mature mRNA that is 1250 nucleotides (nt) long. Molecular analysis shows that the mature mRNAconsists of four exons that measure 400 nt(exon 1 ), 320 nt(exon 2 ), 230 nt(exon 3 ), and 300 nt(exon 4 ).A mother and father with two healthy children and twochildren with the disease have northern blot analysisperformed in a medical genetics laboratory. The results of the northern blot for each family member are shown here.

Chapter 15, Problem 15P, 13.17 A hereditary disease is inherited as an autosomal recessive trait. The wildtype allele of the

a. Identify the genotype of each family member, using the sizes of mRNAs to indicate each allele. (For example, a person who is homozygous wild type is indicated as “1250/1250 .” )

b. Based on your analysis, what is the most likely molecular abnormality causing the disease allele?

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