Genetic diversity and the structure of linkage disequilibrium in the methylenetetrahydrofolate reductase locus

Genetic diversity and the structure of linkage disequilibrium in the methylenetetrahydrofolate... Investigation of linkage disequilibrium block architecture in human genome is modern, intensely investigated field of molecular genetics. In the present study, genetic differentiation and linkage disequilibrium pattern in the methylenetetrahydrofolate reductase (MTHFR) locus was examined in the populations of Russians, Tuvinians, and Northern and Southern Kyrgyzes. Methylenetetrahydrofolate reductase is the key enzyme of folate cycle, responsible for reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Decreased enzymatic activity of this protein often caused by certain associations of MTHFR alleles results in the increased plasma homocysteine levels. In the population groups examined, genotype and allele frequencies at five polymorphic MTHFR loci: rs17037397, rs4846052, rs1801133, rs1801131, and rs1537516 were evaluated. Statistically significant genetic differences between the population group of Southern Kyrgyzes and the other groups, as well as between Russians and Tuvinians, were demonstrated. In the MTHFR gene from the population of Southern Kyrgyzes one block was revealed; in the populations of Russians, Tuvinians, and Northern Kyrgyzes two blocks were detected. Thus, the structure of linkage disequilibrium in the MTHFR locus demonstrated population-specific pattern. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Genetic diversity and the structure of linkage disequilibrium in the methylenetetrahydrofolate reductase locus

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Publisher
SP MAIK Nauka/Interperiodica
Copyright
Copyright © 2008 by MAIK Nauka
Subject
Biomedicine; Microbial Genetics and Genomics; Animal Genetics and Genomics; Human Genetics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1134/S102279540810013X
Publisher site
See Article on Publisher Site

Abstract

Investigation of linkage disequilibrium block architecture in human genome is modern, intensely investigated field of molecular genetics. In the present study, genetic differentiation and linkage disequilibrium pattern in the methylenetetrahydrofolate reductase (MTHFR) locus was examined in the populations of Russians, Tuvinians, and Northern and Southern Kyrgyzes. Methylenetetrahydrofolate reductase is the key enzyme of folate cycle, responsible for reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Decreased enzymatic activity of this protein often caused by certain associations of MTHFR alleles results in the increased plasma homocysteine levels. In the population groups examined, genotype and allele frequencies at five polymorphic MTHFR loci: rs17037397, rs4846052, rs1801133, rs1801131, and rs1537516 were evaluated. Statistically significant genetic differences between the population group of Southern Kyrgyzes and the other groups, as well as between Russians and Tuvinians, were demonstrated. In the MTHFR gene from the population of Southern Kyrgyzes one block was revealed; in the populations of Russians, Tuvinians, and Northern Kyrgyzes two blocks were detected. Thus, the structure of linkage disequilibrium in the MTHFR locus demonstrated population-specific pattern.

Journal

Russian Journal of GeneticsSpringer Journals

Published: Oct 16, 2008

References

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