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 3, Problem 18P

The gene causing Coffin–Lowry syndrome (OMIM 303600) was recently identified and mapped on the human X chromosome. Coffin–Lowry syndrome is a rare disorder affecting brain morphology and development. It also produces skeletal and growth abnormalities, as well as abnormalities of motor control. Coffin–Lowry syndrome affects males who inherit a mutation of the X-linked gene. Most carrier females show no symptoms of the disease but a few carriers do. These carrier females are always less severely affected than males. Offer an explanation for this finding.

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Faulty Tooth Enamel Formation Amelogenesis imperfecta (AI) is a disorder of faulty tooth enamel formation. It is inherited in an autosomal dominant and X-linked dominant pattern. The expression of AI disorder is determined by mutations in the autosomal alleles. One copy of the mutated allele (A) will cause the disorder. The severity of the disorder is determined by mutations in a gene carried on the X chromosome. Normal (or non-severe) abnormality (XN) is dominant over the abnormality (or severe) (Xn) allele. In the absence of the autosomal dominant allele, the abnormality gene on the X chromosome is notexpressed. Question:A woman with normal teeth had four children with a man with non-severe form of AI: A boy was born without amelogenesis imperfecta A girl was born without amelogenesis imperfecta  A boy was born with severe amelogenesis imperfecta A boy was born with non severe amelogenesis imperfecta   Identify the parental genotypes.  Complete the Punnett square for the parental…
One of the most famous cases of an X-linked recessive mutation in humans is that of hemophilia found in the descendants of Britain’s Queen Victoria. The pedigree of the royal family indicates that Victoria was heterozygous for the trait; however, her father was not affected, and no other member of her maternal line appeared to carry the mutation. What are some possible explanations of how the mutation arose? What types of mutations could lead to the disease?
Duchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating.  Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle.  Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene.  Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1).  The actual DMD mRNA is about 16,000 base-pairs!------Consider single nucleotide polymorphism (SNP) #1 (Figure 1).  Is this mutation likely to cause Duchenne muscular…

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Genetic Analysis: An Integrated Approach (2nd Edition)

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