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 dyskerptosis congenita , the disorder is caused by one or two nitrogen base substitutions that change the sequence of the DNA 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. c. i Identify a field of research, other than days keratosis congenita , that could use knowledge gained about telomerase and telomeres . Explain how this information might be used. c. ii Evaluate how this research could affect either an individual or society. Include one potential advantage and one potential disadvantage in your evaluation. From the time that a sperm cell first fertilizes an egg cell, a "biological clock" beginsticking within the zygote. The number of times that cells, all of which come fromthe original zygote, will be able to divide is limited.On each end of a chromosome is a structure known as a telomere. Each time theDNA replicates, teh telmere shortens. This progressive shortening will eventuallycause the telomere length to shorten to the point that the DNA will no longer beable to replicate, causing the cell to die. An enzyme known as telomerase is foundin 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 havereduced telomerase activity. Affected individuals die between the ages of 16 and50 years. Death is usually associated with bone marrow failure, although thepatient will exhibit many other symptoms. Kyskeratosis congenita is caused by amutation 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 individualscan be heterozygous. In some autosomal patients, a segment of 821 base pairs ofthe telomerase gene has been deleted. In other patients, one or two nitrogen basepair substitutions have occurred.

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Description: 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 autos

"Genes" are the fundamental unit of heredity. They store genetic information in the form of DNA,…

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Human Anatomy & Physiology (11th Edition)

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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. b. In some patients with autosomal dyskerptosis congenita , the disorder is caused by one or two nitrogen base substitutions that change the sequence of the DNA 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. c. i Identify a field of research, other than days keratosis congenita , that could use knowledge gained about telomerase and telomeres . Explain how this information might be used. c. ii Evaluate how this research could affect either an individual or society. Include one potential advantage and one potential disadvantage in your evaluation.

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 base pairs of
the telomerase gene has been deleted. In other patients, one or two nitrogen base
pair substitutions have occurred.

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