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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Neurofibromatosis-1 (NF1) is an autosomal dominant disorder where tumours form in the base layer of the skin or in nerve tissues.
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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…
Tuberous Sclerosis (TS) is an autosomal dominant genetic disease characterized by seizures, mental retardation, autism, and benign tumors of the brain, heart, skin, and kidneys. The kidney tumors can also be malignant. This disease exhibits a wide range of severity, and only about 1/3 of the cases are inherited. Two different genes have been tightly linked to the disease in families where it is inherited. The remaining 2/3 appear to be due to mutations in one of the 2 genes as well. Overall it appears that 1/2 are caused by mutations in TSC1 and the other half by mutations in TSC2.
A rat model for hereditary renal carcinoma (kidney cancer) has been found. Southern and Northern blot analysis of the TSC1 and TSC2 gene revealed no differences between these rats and normal rats. Not all the rats in the strain would get cancer but a significant proportion did and those were selected for and used in experiments.
1. a) What was detected by the Southern blots? (look this up, make your…
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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- 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. Edit View Insert Format Tools Table 12pt ✓ 80 F3 V Paragraph ✓ $ 4 Yes or No 000 000 F4 DO LO % 5 BIUAV T² | F5 ^ MacBook Air 6 2 F6 V & 7 F7 * 8 DII F8 ( 9 DD F9 1 0 S Farrow_forwardA form of hemophilia is caused by a sex-linked (X-linked) recessive gene. A phenotypically normal woman whose father had hemophilia marries a man who suffers with hemophilia. What is the probability that their first daughter will have hemophilia?arrow_forwardSickle cell anemia is inherited as an autosomal recessive condition. It also exhibits incomplete dominance in that the heterozygous genotype displays a mild form of the disease known as sickle cell trait while individuals with the homozygous recessive genotype have a severe form of SCA. A man who has severe sickle cell anemia marries a woman who suffers from a mild trait. What is the probabilitu they will have a child with severe SCA?What is the probability they will have a child with mild SCA? What is the probability they will have a normal child? Show ALL work using punnett squares.arrow_forward
- A man with thalassemia minor marries a normal woman. What phenotypic ratios of thalassemia-affected children might these parents expect?arrow_forwardPlease 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 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
- Review the process of autosomal dominant inheritance by coloring the following figures. In this instance the father is affected in the mother is unaffected to illustrate the transmission of the disorder from the father to the children color the figures as described.arrow_forwardHemophilia A is caused by a recessive X-linked allele that encodes a defective form of a clotting protein. If a affected father and a mother who is known to not be a carrier have children, what percentage of female offspring will have hemophilia?arrow_forwardA couple are both phenotypically normal but their son suffers from hemophilla, a sex linked recessive disorder. What fraction of their children are likely to suffer from hemophilia. what fraction are likely to be carriers.arrow_forward
- 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 not expressed. 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 cross, and identify the…arrow_forwardAmelogenesis 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 cross, and identify the possible…arrow_forwardAmelogenesis 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 not expressed. 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 cross, and identify the…arrow_forward
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