Population Study of Frequency of Methylenetetrahydrofolate Reductase C677T Gene Polymorphism in Yakutia

Population Study of Frequency of Methylenetetrahydrofolate Reductase C677T Gene Polymorphism in... The enzyme methylenetetrahydrofolate reductase (MTHFR) catalyzes synthesis of 5′-methylenehydrofolate, which is the methyl donor for the conversion of homocysteine to methionine. According to the numerous literature data, polymorphic variant of the MTHFR-encoding gene, C677T, is associated with hyperhomocysteinemia, vascular pathologies, neural tube defects, dementia, perinatal mortality, mental disorders, long-term neurodegenerative disorders, lens displacement, arachnodactyly, and venous thromboses. The present study was focused on the analysis of the C677T polymorphism (missence mutation leading to the replacement of cytosine by thymine at position 677) of the MTHFR gene in three indigenous populations of the Republic of Sakha (Yakutia), living in the settlements of Cheriktei, Byadi, and Dyupsya. Comparison of the genotype and allele frequencies revealed no substantial differences between the three Yakut populations, as well as between Yakuts and other Mongoloid ethnic groups. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Population Study of Frequency of Methylenetetrahydrofolate Reductase C677T Gene Polymorphism in Yakutia

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Publisher
Kluwer Academic Publishers-Plenum Publishers
Copyright
Copyright © 2004 by MAIK “Nauka/Interperiodica”
Subject
Biomedicine; Human Genetics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1023/B:RUGE.0000029161.37891.f3
Publisher site
See Article on Publisher Site

Abstract

The enzyme methylenetetrahydrofolate reductase (MTHFR) catalyzes synthesis of 5′-methylenehydrofolate, which is the methyl donor for the conversion of homocysteine to methionine. According to the numerous literature data, polymorphic variant of the MTHFR-encoding gene, C677T, is associated with hyperhomocysteinemia, vascular pathologies, neural tube defects, dementia, perinatal mortality, mental disorders, long-term neurodegenerative disorders, lens displacement, arachnodactyly, and venous thromboses. The present study was focused on the analysis of the C677T polymorphism (missence mutation leading to the replacement of cytosine by thymine at position 677) of the MTHFR gene in three indigenous populations of the Republic of Sakha (Yakutia), living in the settlements of Cheriktei, Byadi, and Dyupsya. Comparison of the genotype and allele frequencies revealed no substantial differences between the three Yakut populations, as well as between Yakuts and other Mongoloid ethnic groups.

Journal

Russian Journal of GeneticsSpringer Journals

Published: Oct 18, 2004

References

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