Pearson eText Genetic Analysis: An Integrated Approach -- Instant Access (Pearson+)
Pearson eText Genetic Analysis: An Integrated Approach -- Instant Access (Pearson+)
3rd Edition
ISBN: 9780135564172
Author: Mark Sanders, John Bowman
Publisher: PEARSON+
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Chapter 4, Problem 20P

Brachydactyly type D is a human autosomal dominant condition in which the thumbs are abnormally short and broad. In most cases, both thumbs are affected, but occasionally just one thumb is involved. The accompanying pedigree shows a family in which brachydactyly type D is segregating. Filled circles and squares represent females and males who have involvement of both thumbs. Halffilled symbols represent family members with just one thumb affected.

Chapter 4, Problem 20P, Brachydactyly type D is a human autosomal dominant condition in which the thumbs are abnormally

a. Is there any evidence of variable expressivity in this family? Explain.

b. Is there evidence of incomplete penetrance in this family? Explain.

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Refer to the pedigree below which shows inheritance for achondroplasia (dwarfism), a dominantly inherited trait (denoted as D), which are the darkened circles and squares. Dwarfism (darkened shapes) are dominantly inherited, while normal height is recessively inherited (hh). Based on the pedigree, what is the correct genotype for individual #II-6? Dominant Autosomal Pedigree 2 II 2 3 II 1 2 3 6 9 10 Dd DD DD or Dd dd
Below is a pedigree chart for a family that has a history of Alkaptonuria.   Individuals infected with this condition can have darkened skin, brown urine, and can suffer from joint damage and other complications.  Given this pedigree answer the following questions.   Given the data in the pedigree chart is this genetic condition autosomal dominant or autosomal recessive? What are the genotypes for #1, #2, and #3?  If either of the 4th generation "aa" females were to mate with a homozygous dominant male would any of their offspring illustrate the phenotype?  Why or why not?
Achondroplasia is an autosomal dominant disorder characterized by disproportionate short stature: the legs and arms of people with achondroplasia are short compared with the head and trunk. The disorder is due to a base substitution in the gene, located on the short arm of chromosome 4, that encodes fibroblast growth factor receptor 3 (FGFR3). Although achondroplasia is clearly inherited as an autosomal dominant trait, more than 80% of the people who have achondroplasia are born to parents with normal stature. This high percentage indicates that most cases are caused by newly arising mutations; these cases (not inherited from an affected parent) are referred to as sporadic. Studies have demonstrated that sporadic cases of achondroplasia are almost always caused by mutations inherited from the father (paternal mutations). In addition, the occurrence of achondroplasia is higher among the children of older fathers; approximately 50% of children with achondroplasia are born to fathers…

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Pearson eText Genetic Analysis: An Integrated Approach -- Instant Access (Pearson+)

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