Genetics: From Genes to Genomes, 5th edition
Genetics: From Genes to Genomes, 5th edition
5th Edition
ISBN: 9780073525310
Author: Leland H. Hartwell, Michael L. Goldberg, Janice A. Fischer, Leroy Hood, Charles F. Aquadro
Publisher: McGraw-Hill Education
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Chapter 16, Problem 18P

The human IGF-2R gene is autosomal and maternally imprinted. Copies of the gene received from the mother are not expressed, but copies received from the father are expressed. You have found two alleles of this gene that encode two different forms of the IGF-2R protein distinguishable by gel electrophoresis. One allele encodes a 60K (Kilodalton) blood protein; the other allele encodes a 50K blood protein. In an analysis of blood proteins from a couple named Bill and Joan, you find only the 60K protein in Joan’s blood and only the 50K protein in Bill’s blood. You then look at their children: Jill is producing only the 50K protein, while Bill Jr. is producing only the 60K protein.

a. With these data alone, what can you say about the IGF-2R genotype of Bill Sr. and Joan?
b. Bill Jr. and a woman named Sara have two children, Pat and Tim. Pat produces only the 60K protein and Tim produces only the 50K protein. With the accumulated data, what can you now say about the genotypes of Joan and Bill Sr.?
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The human IGF2 gene is autosomal and maternally imprinted. Copies of the gene received from the mother are not expressed, but copies received from the father are expressed. You have found two alleles of this gene that encode two different forms of the IGF2 protein distinguishable by gel electrophoresis. One allele encodes a 60K (Kilodalton) blood protein; the other allele encodes a 50K blood protein. In an analysis of blood proteins from a couple named Bill and Joan, you find only the 60K protein in Joan’s blood and only the 50K protein in Bill’s blood. You then look at their children: Jill is producing only the 50K protein, while Bill Jr. is producing only the 60K protein. Draw the possible pedigree.  With these data alone, what can you say about the IGF2 genotype of Bill Sr. and Joan? Bill Jr. and a woman named Sara have two children, Pat and Tim. Pat produces only the 60K protein and Tim produces only the 50K protein. With the accumulated data, what can you now say about the…
An experimental assay for the blood-clotting protein called factorIX is available. A blood sample was obtained from each individual in the following pedigree. The amount of factor IX protein, shown within each symbol on the pedigree, is expressed as a percentage of the average amount observed in individuals who do not carry a mutant copy of the gene.
Leber Congenital Amaurosis (LCA) causes progressive vision loss due to defects in the gene that encodes RPE65 isomerase.  Affected individuals are homozygous recessive for mutant alleles of the RPE65 gene.  You are trying to determine the molecular nature of the mutations in three individuals with LCA.  For ease of analysis, you may assume that each individual is homozygous for the same mutant allele (though the three individuals have different mutations than each other).   You use the polymerase chain reaction to amplify DNA from each patient and you determine the sequence of the DNA and compare it to unaffected individuals.  You identify the following differences.  Note that the non-template strand of DNA is given and the changes are highlighted using red boldface.  You can assume that the sequences are in the first reading frame (eg. the first three nucleotides of each sequence is a codon).   The coding region of the gene is 1602 bp and the position of the sequences shown below is…

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Genetics: From Genes to Genomes, 5th edition

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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY