Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children.

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dc.contributor.authorKaur, Anupam
dc.contributor.authorKaur, Amandeep
dc.date.accessioned2015-03-05T08:44:34Z
dc.date.available2015-03-05T08:44:34Z
dc.date.issued2013-10
dc.description.abstractINTRODUCTION: The relationship between chromosomal non‑disjunction leading to aneuploidy and folate metabolism has drawn attention in the recent years. In this study, we examined the polymorphism in the gene encoding the folate metabolizing enzyme methylenetetrahydrofolate reductase (MTHFR), namely, 677 C‑T in women having Down syndrome (DS) children. MATERIALS AND METHODS: The prevalence of these variant genotypes (MTHFR 677 C‑T polymorphism) in women having DS children (case mothers) (n = 110) was compared with controls (n = 111) from Punjab. Genotyping was done using the polymerase chain reaction method followed by restriction fragment length polymorphism. RESULTS: In the present study, 1.8% of case mothers had TT genotype while none of the control mothers showed this genotype. T allele frequency among cases was 0.13 and 0.11 in controls. The Chi‑square value showed a non‑significant difference between cases and controls. CONCLUSION: No association has been observed between 677 C‑T polymorphism and risk of non‑disjunction in case mothers. Detection of polymorphisms in more genes of folate pathway is required to find out the exact cause of non‑disjunction.en_US
dc.identifier.citationKaur Anupam, Kaur Amandeep. Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children. Indian Journal of Human Genetics. 2013 Oct-Dec ;19 (4): 412-414.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/156606
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2013;volume=19;issue=4;spage=412;epage=414;aulast=Kauren_US
dc.subjectDown syndromeen_US
dc.subjectmethylenetetrahydrofolate reductaseen_US
dc.subjectpolymorphismen_US
dc.subject.meshAdult
dc.subject.meshChi-Square Distribution
dc.subject.meshChild
dc.subject.meshDown Syndrome --epidemiology
dc.subject.meshDown Syndrome --genetics
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshMethylenetetrahydrofolate Reductase (NADPH2) --genetics
dc.subject.meshIndia
dc.subject.meshPolymorphism, Genetic --classification
dc.subject.meshPolymorphism, Genetic --genetics
dc.titlePrevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children.en_US
dc.typeArticleen_US
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