Genetic Analysis: An Integrated Approach (3rd Edition)
3rd Edition
ISBN: 9780134605173
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
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Chapter 3, Problem 13P
In humans, hemophilia A (OMIM 306700) is an X-linked recessive disorder that affects the gene for factor VIII protein, which is essential for blood clotting. The dominant and recessive alleles for the factor VIII gene are represented by H and h. Albinism is an autosomal recessive condition that results from mutation of the gene producing tyrosinase, an enzyme in the melanin synthesis pathway. A and a represent the tyrosinase alleles. A healthy woman named Clara (II-2), whose father (I-1) has hemophilia and whose brother (II-1) has albinism, is married to a healthy man named Charles (II-3), whose parents are healthy. Charles’s brother (II-5) has hemophilia, and his sister (II-4) has albinism. The pedigree is shown below.
a. What are the genotypes of the four parents (I-1 to I-4) in this pedigree?
b. Determine the probability that the first child of Clara and Charles will be a
i. boy with hemophilia
ii. girl with albinism
iii. healthy girl
iv. boy with both albinism and hemophilia
v. boy with albinism
vi. girl with hemophilia
c. If Clara and Charles’s first child has albinism, what is the chance the second child has albinism? Explain why this probability is higher than the probability you calculated in part (b).
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In humans, hemophilia is an X-linked recessive disorder that affects the gene for factor VIII protein, which is essential for blood clotting. The dominant and recessive alleles for the factor VIII gene are represented by H and h. Albinism is an autosomal recessive condition involving the tyrosinase enzyme which synthesizes pigment. Alleles of tyrosinase are represented by A and a. The provided pedigree shows a new marriage between Clara and Charles.
A) Review the pedigree, filling in any genotypes that can be determined from the displayed traits. B) What is the probability that their first child will display hemophilia, albinism, or BOTH hemophilia AND albinism.C) If Clara and Charles first child has albinism, what is the probability that the second child will also display albinism?
Anhidrotic ectodermal dysplasia is an X-linked recessive disorder in humans characterized by small teeth, no sweat glands, and sparse body hair. This trait is usually seen in men, but women who are heterozygous carriers of the trait often have irregular patches of skin with few or no sweat glands (see the illustration below). a. Explain why women who are heterozygous carriers of a recessive gene for anhidrotic ectodermal dysplasia have irregular patches of skin lacking sweat glands. b. Why does the distribution of the patches of skin lacking sweat glands differ among the females depicted in the illustration, even between the identical twins?
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…
Chapter 3 Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
Ch. 3 - Examine the following diagrams of cells from an...Ch. 3 - Our closest primate relative, the chimpanzee, has...Ch. 3 -
3. In a test of his chromosome theory of...Ch. 3 - Cohesion between sister chromatids, as well as...Ch. 3 - 5. The diploid number of the hypothetical animal...Ch. 3 - 6. An organism has alleles R1 and R2 on one pair...Ch. 3 - Explain how the behavior of homologous chromosomes...Ch. 3 - 8. Suppose crossover occurs between the homologous...Ch. 3 -
9. Alleles A and a are on one pair of autosomes,...Ch. 3 - Prob. 10P
Ch. 3 - Describe the role of the following structures or...Ch. 3 - A womans father has ornithine transcarbamylase...Ch. 3 - In humans, hemophilia A (OMIM 306700) is an...Ch. 3 -
14. A wild-type male and a wild-type female...Ch. 3 - 15. A woman with severe discoloration of her tooth...Ch. 3 - 16. In a large metropolitan hospital, cells from...Ch. 3 - In cats, tortoiseshell coat color appears in...Ch. 3 - 18. The gene causing Coffin–Lowry syndrome (OMIM...Ch. 3 - 19. Four eye-color mutants in Drosophila—apricot,...Ch. 3 - 20. For each pedigree shown,
a. Identify which...Ch. 3 - 21. Use the blank pedigrees provided to depict...Ch. 3 - 22. Figure 3.22 (page 89) illustrates reciprocal...Ch. 3 - 23. In fruit flies, yellow body (y) is recessive...Ch. 3 - 24. In a species of fish, a black spot on the...Ch. 3 - LeschNyhan syndrome (OMIM 300322) is a rare...Ch. 3 - 26. In humans, SRY is located near a...Ch. 3 - 27. In an 1889 book titled Natural Inheritance...Ch. 3 - 28. In Drosophila, the X-linked echinus eye...Ch. 3 - 29. A wild-type Drosophila male and female are...Ch. 3 - 30. Drosophila has a diploid chromosome number of...Ch. 3 - The cell cycle operates in the same way in all...Ch. 3 - 33. Form a small discussion group and decide on...Ch. 3 - 34. Duchenne muscular dystrophy (DMD; OMIM 310200)...Ch. 3 - Prob. 35P
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They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. 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