MTHFR C677T polymorphisms among the Ahirs and Jats of Haryana (India).
Am J Hum Biol
; 20(1): 116-7, 2008.
Article
en En
| MEDLINE
| ID: mdl-17957761
ABSTRACT
Methylenetetrahydrofolate reductase (MTHFR) is a vital enzyme catalyzing the nicotinamide adenine dinucleotide phosphate (NADPH) linked reduction of 5,10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate, which serves as cofactor in methylation of homocysteine to methionine. Three clinically important mutations of the MTHFR gene namely C677T, A1298C, and T1317C are reported to be associated with various pathological conditions. The present study deals with the screening of C677T mutation among two endogamous groups viz. Ahirs and Jats of Haryana (India). The mutation is reported to be significantly associated with thrombosis, hypertension, stroke and myocardial infraction, neural tube defects (NTDs), and recurrent pregnancy loss. The T allele among Jats is found to be more frequent (0.06) than Ahirs (0.03). Moreover, the Jats population shows a significant deviation from Hardy-Weinberg equilibrium with respect to C677T mutation. This could probably be due to some selection pressure operating in the population.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Polimorfismo de Nucleótido Simple
/
Metilenotetrahidrofolato Reductasa (NADPH2)
/
Frecuencia de los Genes
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Am J Hum Biol
Asunto de la revista:
BIOLOGIA
Año:
2008
Tipo del documento:
Article
País de afiliación:
India