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b. How is the inheritance pattern of Jervell and Lange-Nielsen syndrome similar to that of familial hypercholesterolemia? Answer c. How possible is it that Tina would not inherit either the serious or asymptomatic form? Answer

b. How is the inheritance pattern of Jervell and Lange-Nielsen syndrome similar to that of familial hypercholesterolemia? Answer c. How possible is it that Tina would not inherit either the serious or asymptomatic form? Answer

Biology (MindTap Course List)
Biology (MindTap Course List)
11th Edition
ISBN:9781337392938
Author:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg
Publisher:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg
Chapter16: Human Genetics And The Human Genome
Section16.3: Genetic Diseases Caused By Single-gene Mutations
Problem 7LO: State whether each of the following genetic defects is inherited as an autosomal recessive,...
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What unusual phenomenon is at work in each of the following disorders?

 

b. How is the inheritance pattern of Jervell and Lange-Nielsen syndrome similar to that of familial hypercholesterolemia? Answer c. How possible is it that Tina would not inherit either the seriou or asymptomatic form? Answer
Transcribed Image Text:b. How is the inheritance pattern of Jervell and Lange-Nielsen syndrome similar to that of familial hypercholesterolemia? Answer c. How possible is it that Tina would not inherit either the seriou or asymptomatic form? Answer
b. Two couples are heterozygous for genes that cause albinism, but each gene specifies a different enzyme in the biochemical pathway for skin pigment synthesis. Their children, thus, do not face a 25% risk of having albinism. Answer c. Clara has severe neurofibromatosis type I. She has brown spots on her skin and several large tumors beneath her skin. A gene test shows that her son has inherited the disease-causing autosomal dominant allele, but he has no symptoms. Answer d. Mateo, an apparently healthy 24-year-old basketball player, dies when his aorta ruptures. A younger brother is nearsighted and has long and thin fingers, and an older sister is extremely tall, with long arms and legs. The older sister, too, has a weakened aorta. All of these siblings have Marfan syndrome. Answer e. The B allele confers black coat color and the b allele brown coat color in Labrador dogs. When another gene, E, is inherited, the coat is golden no matter what the B phenotype is. A dog of genotype ee expresses the black phenotype. Answer 5. Connie Winslow is deaf. When she was old enough to attend school, she began having fainting spells, especially when she became excited. Her parents took her to a neurologist, who checked Connie's heart and diagnosed long-QT syndrome with deafness also called Jervell and Lange-Nielsen syndrome. This is a severe form of inherited heartbeat irregularity that can be fatal. Seven different genes can cause long-QT syndrome. The Winslows visited a medical geneticist, who discovered that each had a mild heartbeat irregularity that did not produce symptoms. Connie's parents had normal hearing. Connie's younger brother Jim was also hearing-impaired and suffered night terrors, but had so far not fainted during the day. Like Connie, he had the full syndrome. Tina, still a baby, was also tested. She did not have either form of the family's illness; her heartbeat was normal.
Transcribed Image Text:b. Two couples are heterozygous for genes that cause albinism, but each gene specifies a different enzyme in the biochemical pathway for skin pigment synthesis. Their children, thus, do not face a 25% risk of having albinism. Answer c. Clara has severe neurofibromatosis type I. She has brown spots on her skin and several large tumors beneath her skin. A gene test shows that her son has inherited the disease-causing autosomal dominant allele, but he has no symptoms. Answer d. Mateo, an apparently healthy 24-year-old basketball player, dies when his aorta ruptures. A younger brother is nearsighted and has long and thin fingers, and an older sister is extremely tall, with long arms and legs. The older sister, too, has a weakened aorta. All of these siblings have Marfan syndrome. Answer e. The B allele confers black coat color and the b allele brown coat color in Labrador dogs. When another gene, E, is inherited, the coat is golden no matter what the B phenotype is. A dog of genotype ee expresses the black phenotype. Answer 5. Connie Winslow is deaf. When she was old enough to attend school, she began having fainting spells, especially when she became excited. Her parents took her to a neurologist, who checked Connie's heart and diagnosed long-QT syndrome with deafness also called Jervell and Lange-Nielsen syndrome. This is a severe form of inherited heartbeat irregularity that can be fatal. Seven different genes can cause long-QT syndrome. The Winslows visited a medical geneticist, who discovered that each had a mild heartbeat irregularity that did not produce symptoms. Connie's parents had normal hearing. Connie's younger brother Jim was also hearing-impaired and suffered night terrors, but had so far not fainted during the day. Like Connie, he had the full syndrome. Tina, still a baby, was also tested. She did not have either form of the family's illness; her heartbeat was normal.
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