NDLI: Evidence for increased recombination near the human insulin gene: implication for disease association studies.

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Evidence for increased recombination near the human insulin gene: implication for disease association studies.

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Evidence for increased recombination near the human insulin gene: implication for disease association studies.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Permutt, M. A. Chakravarti, A. Elbein, S. C.
Abstract	Haplotypes for four new restriction site polymorphisms (detected by Rsa I, Taq I, HincII, and Sac I) and a previously identified DNA length polymorphism (5' FP), all at the insulin locus, have been studied in U.S. Blacks, African Blacks, Caucasians, and Pima Indians. Black populations are polymorphic for all five markers, whereas the other groups are polymorphic for Rsa I, Taq I, and 5' FP only. The data suggest that approximately equal to 1 in 550 base pairs is variant in this region. The polymorphisms, even though located within 20 kilobases, display low levels of nonrandom association. Population genetic analysis suggests that recombination within this 20-kilobase segment occurs 24 times more frequently than expected if crossing-over occurred uniformly throughout the human genome. These findings suggest that population associations between DNA polymorphisms and disease susceptibility genes near the insulin gene or structural mutations in the insulin gene will be weak. Thus, population studies would probably require large sample sizes to detect associations. However, the low levels of nonrandom association increase the information content of the locus for linkage studies, which is the best alternative for discovering disease susceptibility genes.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	4
Volume Number	83
Language	English
Publisher	National Academy of Sciences
Publisher Date	1986-03-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Insulin Genetics Recombination, Genetic African Continental Ancestry Group DNA Restriction Enzymes Disease Susceptibility European Continental Ancestry Group Genetic Markers Indians, North American Polymorphism, Genetic Comparative Study Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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