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35. Dyskeratosis congenita (DKC) is a rare genetic disorder characterized by abnormal fingernails and skin pigmentation, the formation of white patches on the tongue and cheek, and progressive failure of the bone marrow. An autosomal dominant form of DKC results from mutations in the gene that encodes the RNA component of telomerase. Tom Vulliamy and his colleagues examined a series of families with autosomal dominant DKC (T. Vulliamy et al. 2004. Nature Genetics 36:447-449). They observed that the median age of onset of DKC in parents was 37 years, whereas the median age of onset in the children of affected parents was 14.5 years. Thus, DKC in these families arose at progressively younger apes in successive generations, a phenomenon known as anticipation measured the telomere lengths of members of these families; the measurements are given in the accompanying table. Telomeres normally shorten with age, so telomere length was adjusted for age; the values given in the table are the differences between the actual length and the expected length based on age. Note that the values of all members of these families are negative, indicating that their telomeres are shorter than normal for their age; the more negative the number, the shorter the The researchers these families are negative, indicating that their telomeres are shorter than normal for their age; the more negative the number, the shorter the telomere. Parent telomere length Child telomere length -4.7 -6.1 -6.6 -6.0 -3.9 -0.6 -1.4 -2.2 -5.2 -5.4 -2.2 -3.6 -4.4 -2.0 -4.3 -6.8 -5.0 -3.8 -5.3 -6.4 -0.6 -2.5 -1.3 -5.1 -3.9 -4.2 -5.9

35. Dyskeratosis congenita (DKC) is a rare genetic disorder characterized by abnormal fingernails and skin pigmentation, the formation of white patches on the tongue and cheek, and progressive failure of the bone marrow. An autosomal dominant form of DKC results from mutations in the gene that encodes the RNA component of telomerase. Tom Vulliamy and his colleagues examined a series of families with autosomal dominant DKC (T. Vulliamy et al. 2004. Nature Genetics 36:447-449). They observed that the median age of onset of DKC in parents was 37 years, whereas the median age of onset in the children of affected parents was 14.5 years. Thus, DKC in these families arose at progressively younger apes in successive generations, a phenomenon known as anticipation measured the telomere lengths of members of these families; the measurements are given in the accompanying table. Telomeres normally shorten with age, so telomere length was adjusted for age; the values given in the table are the differences between the actual length and the expected length based on age. Note that the values of all members of these families are negative, indicating that their telomeres are shorter than normal for their age; the more negative the number, the shorter the The researchers these families are negative, indicating that their telomeres are shorter than normal for their age; the more negative the number, the shorter the telomere. Parent telomere length Child telomere length -4.7 -6.1 -6.6 -6.0 -3.9 -0.6 -1.4 -2.2 -5.2 -5.4 -2.2 -3.6 -4.4 -2.0 -4.3 -6.8 -5.0 -3.8 -5.3 -6.4 -0.6 -2.5 -1.3 -5.1 -3.9 -4.2 -5.9

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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Explain why the telomeres of people with DKC are shorter than normal.

35. Dyskeratosis congenita (DKC) is a rare genetic disorder characterized by abnormal fingernails and skin pigmentation, the formation of white patches on the tongue and cheek, and progressive failure of the bone marrow. An autosomal dominant form of DKC results from mutations in the gene that encodes the RNA component of telomerase. Tom Vulliamy and his colleagues examined a series of families with autosomal dominant DKC (T. Vulliamy et al. 2004. Nature Genetics 36:447-449). They observed that the median age of onset of DKC in parents was 37 years, whereas the median age of onset in the children of affected parents was 14.5 years. Thus, DKC in these families arose at progressively younger apes in successive generations, a phenomenon known as anticipation measured the telomere lengths of members of these families; the measurements are given in the accompanying table. Telomeres normally shorten with age, so telomere length was adjusted for age; the values given in the table are the differences between the actual length and the expected length based on age. Note that the values of all members of these families are negative, indicating that their telomeres are shorter than normal for their age; the more negative the number, the shorter the The researchers
Transcribed Image Text:35. Dyskeratosis congenita (DKC) is a rare genetic disorder characterized by abnormal fingernails and skin pigmentation, the formation of white patches on the tongue and cheek, and progressive failure of the bone marrow. An autosomal dominant form of DKC results from mutations in the gene that encodes the RNA component of telomerase. Tom Vulliamy and his colleagues examined a series of families with autosomal dominant DKC (T. Vulliamy et al. 2004. Nature Genetics 36:447-449). They observed that the median age of onset of DKC in parents was 37 years, whereas the median age of onset in the children of affected parents was 14.5 years. Thus, DKC in these families arose at progressively younger apes in successive generations, a phenomenon known as anticipation measured the telomere lengths of members of these families; the measurements are given in the accompanying table. Telomeres normally shorten with age, so telomere length was adjusted for age; the values given in the table are the differences between the actual length and the expected length based on age. Note that the values of all members of these families are negative, indicating that their telomeres are shorter than normal for their age; the more negative the number, the shorter the The researchers
these families are negative, indicating that their telomeres are shorter than normal for their age; the more negative the number, the shorter the telomere. Parent telomere length Child telomere length -4.7 -6.1 -6.6 -6.0 -3.9 -0.6 -1.4 -2.2 -5.2 -5.4 -2.2 -3.6 -4.4 -2.0 -4.3 -6.8 -5.0 -3.8 -5.3 -6.4 -0.6 -2.5 -1.3 -5.1 -3.9 -4.2 -5.9
Transcribed Image Text:these families are negative, indicating that their telomeres are shorter than normal for their age; the more negative the number, the shorter the telomere. Parent telomere length Child telomere length -4.7 -6.1 -6.6 -6.0 -3.9 -0.6 -1.4 -2.2 -5.2 -5.4 -2.2 -3.6 -4.4 -2.0 -4.3 -6.8 -5.0 -3.8 -5.3 -6.4 -0.6 -2.5 -1.3 -5.1 -3.9 -4.2 -5.9
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