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 12, Problem 30P

Uniparental disomy is a rare phenomenon in which only one of the parents of a child with a recessive disorder is a carrier for that trait; the other parent is homozygous normal. By analyzing DNA polymorphisms, it is clear that the child received both mutant alleles from the carrier parent but did not receive any copy of the gene from the other parent.

a. Diagram at least two ways in which uniparental disomy could arise. (Hint: These mechanisms all require more than one error in cell division, explaining why uniparental disomy is so rare.) Is there any way to distinguish between these mechanisms to explain any particular case of uniparental disomy?
b. How might the phenomenon of uniparental disomy explain rare cases in which girls are affected with rare X-linked recessive disorders but have unaffected fathers, or other cases in which an X-linked recessive disorder is transmitted from father to son?
c. If you were a human geneticist and believed one of your patients had a disease syndrome caused by uniparental disomy, how could you establish that the cause was not instead mitotic recombination early in the patient’s development from a zygote?
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Chapter 12 Solutions

Genetics: From Genes to Genomes, 5th edition

Ch. 12 - The recessive, X-linked z1 mutation of the...Ch. 12 - Genes a and b are 21 m.u. apart when mapped in...Ch. 12 - In the following group of figures, the pink lines...Ch. 12 - Three strains of Drosophila Bravo, X-ray, and...Ch. 12 - Prob. 15PCh. 12 - Suppose a haploid yeast strain carrying two...Ch. 12 - In the mating between two haploid yeast strains...Ch. 12 - During ascus formation in Neurospora, any...Ch. 12 - In the following figure, black and pink lines...Ch. 12 - In Drosophila, the gene for cinnabar eye color is...Ch. 12 - Semisterility in corn, as seen by unfilled ears...Ch. 12 - Prob. 22PCh. 12 - Prob. 23PCh. 12 - Prob. 24PCh. 12 - Duchenne muscular dystrophy DMD is caused by a...Ch. 12 - Explain how transposable elements can cause the...Ch. 12 - The Drosophila genome normally harbors about 40 P...Ch. 12 - Prob. 28PCh. 12 - Fred and Mary have a child named Bob. The genomic...Ch. 12 - Uniparental disomy is a rare phenomenon in which...Ch. 12 - Among adults with Turner syndrome, it has been...Ch. 12 - In Neurospora, his2 mutants require the amino acid...Ch. 12 - Human geneticists interested in the effects of...Ch. 12 - The incidence of Down syndrome will be very high...Ch. 12 - The Drosophila chromosome 4 is extremely small;...Ch. 12 - Down syndrome is usually caused by having a...Ch. 12 - Common red clover, Trifolium pratense, is a...Ch. 12 - The numbers of chromosomes in the somatic cells of...Ch. 12 - Prob. 39PCh. 12 - Somatic cells in organisms of a particular diploid...Ch. 12 - Prob. 41PCh. 12 - Prob. 42PCh. 12 - Chromosomes normally associate during meiosis I as...Ch. 12 - Using whole-genome sequencing, how could you...Ch. 12 - Prob. 45PCh. 12 - Prob. 46PCh. 12 - Seedless watermelons that you find in the...Ch. 12 - Prob. 48PCh. 12 - What characteristic property of translocations...Ch. 12 - In examining the genome of the rice Oryza sativa...Ch. 12 - Prob. 51PCh. 12 - Prob. 52PCh. 12 - The accompanying figure shows idiograms of human...
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