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1. Determine the approximate number of amino acids that would be missing in the telomerase protein of a person who has the autosomal form of dyskeratosis congenita in which a segment of the normal gene has been deleted.

1. Determine the approximate number of amino acids that would be missing in the telomerase protein of a person who has the autosomal form of dyskeratosis congenita in which a segment of the normal gene has been deleted.

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Use the following information to answer the next question: From the time that a sperm cell first fertilizes an egg cell, a "biological clock" begins ticking within the zygote. The number of times that cells, all of which come from the original zygote, will be able to divide is limited. On each end of a chromosome is a structure known as a telomere. Each time the DNA replicates, teh telmere shortens. This progressive shortening will eventually cause the telomere length to shorten to the point that the DNA will no longer be able to replicate, causing the cell to die. An enzyme known as telomerase is found in rapidly dividing cells, such as those in the testes, skin, hair, and bone marrow. Telomerase lengthens telomeres so that a cell can continue to divide. Dyskeratosis congenita is an inherited human disorder in which patients have reduced telomerase activity. Affected individuals die between the ages of 16 and 50 years. Death is usually associated with bone marrow failure, although the patient will exhibit many other symptoms. Kyskeratosis congenita is caused by a mutation in either the X chromosome or an autosome. In the sex-linked disorder, affected individuals have low levels of telomerase and they have shoerter-than-normal telomeres in various cells. In the autosomal disorder, affected individuals can be heterozygous. In some autosomal patients, a segment of 821
Transcribed Image Text:Use the following information to answer the next question: From the time that a sperm cell first fertilizes an egg cell, a "biological clock" begins ticking within the zygote. The number of times that cells, all of which come from the original zygote, will be able to divide is limited. On each end of a chromosome is a structure known as a telomere. Each time the DNA replicates, teh telmere shortens. This progressive shortening will eventually cause the telomere length to shorten to the point that the DNA will no longer be able to replicate, causing the cell to die. An enzyme known as telomerase is found in rapidly dividing cells, such as those in the testes, skin, hair, and bone marrow. Telomerase lengthens telomeres so that a cell can continue to divide. Dyskeratosis congenita is an inherited human disorder in which patients have reduced telomerase activity. Affected individuals die between the ages of 16 and 50 years. Death is usually associated with bone marrow failure, although the patient will exhibit many other symptoms. Kyskeratosis congenita is caused by a mutation in either the X chromosome or an autosome. In the sex-linked disorder, affected individuals have low levels of telomerase and they have shoerter-than-normal telomeres in various cells. In the autosomal disorder, affected individuals can be heterozygous. In some autosomal patients, a segment of 821
affected individuals can be heterozygous. In some autosomal patients, a segment of 821 base pairs of the telomerase gene has been deleted. In other patients, one or two nitrogen base pair substitutions have occurred. 1. Determine the approximate number of amino acids that would be missing in the telomerase protein of a person who has the autosomal form of dyskeratosis congenita in which a segment of the normal gene has been deleted. b. In some patients with autosomal dyskeratosis congenita, the disorder is caused by one or two nitrogen base substitutions that change the sequence of the DNA in the telomerase gene. Describe what would happen to the etlomerase protein if a triplet of the telomerase gene that was normally ACC mutated to become ACT. Explain your answer.
Transcribed Image Text:affected individuals can be heterozygous. In some autosomal patients, a segment of 821 base pairs of the telomerase gene has been deleted. In other patients, one or two nitrogen base pair substitutions have occurred. 1. Determine the approximate number of amino acids that would be missing in the telomerase protein of a person who has the autosomal form of dyskeratosis congenita in which a segment of the normal gene has been deleted. b. In some patients with autosomal dyskeratosis congenita, the disorder is caused by one or two nitrogen base substitutions that change the sequence of the DNA in the telomerase gene. Describe what would happen to the etlomerase protein if a triplet of the telomerase gene that was normally ACC mutated to become ACT. Explain your answer.
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