MTHFR Gene variants C677T, A1298C and association with Down syndrome: A Case-control study from South India.

Simple item page
dc.contributor.authorCyril, Cyrus
dc.contributor.authorRai, Padmalatha
dc.contributor.authorChandra, N
dc.contributor.authorGopinath, P M
dc.contributor.authorSatyamoorthy, K
dc.date.accessioned2012-06-07T10:04:32Z
dc.date.available2012-06-07T10:04:32Z
dc.date.issued2009-05
dc.description.abstractBACKGROUND: The 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms and low folate levels are associated with inhibition of DNA methyltransferase and consequently DNA hypomethylation. The expanding spectrum of common conditions linked with MTHFR polymorphisms includes certain adverse birth outcome, pregnancy complications, cancers, adult cardiovascular diseases and psychiatric disorders, with several of these associations remaining still controversial. Trisomy 21 or Down syndrome (DS) is the most common genetic cause of mental retardation. It stems predominantly from the failure of chromosome 21 to segregate normally during meiosis. Despite substantial research, the molecular mechanisms underlying non-disjunction leading to trisomy 21 are poorly understood. MATERIALS AND METHODS: Two common variants C677T and A1298C of the MTHFR gene were screened in 36 parents with DS children and 60 healthy couples from Tamil Nadu and Karnataka. The MTHFR genotypes were studied by RFLP analysis of PCR-amplified products and confirmed by sequencing. RESULTS: The CT genotype was seen in three each (8.3%) of case mothers and fathers. One case father showed TT genotype. All the control individuals exhibited the wild type CC genotype. A similar frequency for the uncommon allele C of the second polymorphism was recorded in case mothers (0.35) and fathers (0.37) in comparison with the control mothers (0.39) and fathers (0.37). CONCLUSION: This first report on MTHFR C677T and A1298C polymorphisms in trisomy 21 parents from south Indian population revealed that MTHFR 677CT polymorphism was associated with a risk for Down syndrome.en_US
dc.identifier.citationCyril Cyrus, Rai Padmalatha, Chandra N, Gopinath P M, Satyamoorthy K. MTHFR Gene variants C677T, A1298C and association with Down syndrome: A Case-control study from South India. Indian Journal of Human Genetics. 2009 May; 15(2): 60-64.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/138872
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2910950/en_US
dc.subjectDown syndromeen_US
dc.subjectMTHFR polymorphismsen_US
dc.subjectnondisjunctionen_US
dc.subjecttrisomy 21en_US
dc.subject.meshAdolescent
dc.subject.meshAlleles --analysis
dc.subject.meshChild
dc.subject.meshDown Syndrome --genetics
dc.subject.meshFathers
dc.subject.meshFemale
dc.subject.meshGenetic Association Studies --methods
dc.subject.meshGenetic Variation --genetics
dc.subject.meshGenotype
dc.subject.meshHumans
dc.subject.meshIndia --epidemiology
dc.subject.meshInfant
dc.subject.meshIntellectual Disability --genetics
dc.subject.meshMale
dc.subject.meshMethylenetetrahydrofolate Reductase (NADPH2) --genetics
dc.subject.meshPopulation Groups --genetics
dc.subject.meshPopulation Groups --genetics
dc.subject.otherMothers
dc.titleMTHFR Gene variants C677T, A1298C and association with Down syndrome: A Case-control study from South India.en_US
dc.typeArticleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
ijhg2009v15n2p60.pdf
Size:
121.06 KB
Format:
Adobe Portable Document Format
Description:
Journal article
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Indian Journal of Human Genetics