Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 11, Problem 5QP
Achondroplasia is a rare dominant autosomal defect resulting in dwarfism. The unaffected brother of an individual with achondroplasia is seeking counsel on the likelihood of his being a carrier of the mutant allele. What is the probability that the unaffected client is carrying the achondroplasia allele?
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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…
Neurofibromatosis-1 (NF1) is an autosomal dominant disorder where tumours form in the base layer of the skin or in nerve tissues.
What is the probability that individuals II-1 and II-2 will have a genetic son with NF1? Find the image attached.
O.
2
Hemophilia A is an X-linked trait where blood clotting is affected due to a mutation in a clotting
factor protein. Georgio has hemophilia and attends a support group where he meets Gbenga, who
does not have the disease, but whose father has hemophilia. Her mother is not affected.
A) If they marry, what percentage % of all their children will have hemophilia?
%
B) Georgio meets another woman, Maria, at the hemophilia support group. Maria also lacks the
trait, but her mother has hemophilia while her father is unaffected.
#
3
Would a Georgio-Maria mating provide a larger chance of having afflicted children compared to a
Georgio-Gbenga mating?
C) Show how you came up with your answer to B.
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Chapter 11 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 11.4 - Consumer products including bandages, cotton...Ch. 11.4 - Prob. 2EGCh. 11 - Prob. 1CSCh. 11 - Prob. 2CSCh. 11 - Prob. 3CSCh. 11 - Prob. 1QPCh. 11 - Achondroplasia is an autosomal dominant form of...Ch. 11 - Why is it almost impossible to directly measure...Ch. 11 - What are the factors that influence the mutation...Ch. 11 - Achondroplasia is a rare dominant autosomal defect...
Ch. 11 - Although it is well known that X-rays cause...Ch. 11 - Prob. 7QPCh. 11 - Bruce Ames and his colleagues have pointed out...Ch. 11 - Define and compare the following types of...Ch. 11 - If the coding region of a gene (the exons)...Ch. 11 - Two types of mutations discussed in this chapter...Ch. 11 - Prob. 12QPCh. 11 - A frameshift mutation is caused by a: a....Ch. 11 - In the gene-coding sequence shown here, which of...Ch. 11 - Prob. 15QPCh. 11 - Familial retinoblastoma, a rare autosomal dominant...Ch. 11 - Tay-Sachs disease is an autosomal recessive...Ch. 11 - Replication involves a period of time during which...Ch. 11 - Our bodies are not defenseless against mutagens...Ch. 11 - The cystic fibrosis gene encodes a chloride...
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- Please help me with the following question: Von Willebrand disease is an inherited bleeding disorder. People with von Willebrand disease take a much longer period for blood to clot/stop than others. von Willebrand disease is either inherited in an autosomal dominant pattern or in an autosomal recessive pattern. Question: what is the genotype of the disorder? what are the phenotypic effects of the disorder? What is happening with the DNA to cause the phenotypic effects?arrow_forwardA man with thalassemia minor marries a normal woman. What phenotypic ratios of thalassemia-affected children might these parents expect?arrow_forwardA mother is heterozygous for the X-linked gene for colorblindness and also heterozygous for the autosomal inherited sickle cell anemia. She is married to a man who can see color normally and who is heterozygous for sickle cell trait. Using b (colorblind), B (normal color), S (normal hemoglobin), s (sickle cell), answer the following: a. What are the genotypes of the parents? b: What is the probability of having a child who is both color blind and has sickle cell anemia?arrow_forward
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