DAZL 260A>G and MTHFR 677C>T variants in sperm DNA of infertile Indian men.

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dc.contributor.authorKumar, Kishlay
dc.contributor.authorVenkatesh, S
dc.contributor.authorSharma, P R
dc.contributor.authorTiwari, P K
dc.contributor.authorDada, Rima
dc.date.accessioned2012-08-09T09:53:30Z
dc.date.available2012-08-09T09:53:30Z
dc.date.issued2011-12
dc.description.abstractDAZL (deleted in azoospermia-like) 260A>G and MTHFR (methylene tetrahydrofolate reductase) 677C>T are two important autosomal variants associated with impaired spermatogenesis. In this study, we investigated DAZL 260A>G and MTHFR 677C>T variants in sperm DNA and their frequency in oligozoospermic infertile men of Indian origin. The study on sperm DNA was performed, since it is more prone to oxidative stress-induced damage and mutation. One hundred oligozoopsermic infertile men having normal chromosomal complement with intact Y chromosome and 100 age- and ethnically-matched fertile controls were investigated for these variants in their sperm genome. Spermatozoa were separated by gradient centrifugation and DNA was isolated and analyzed for the single nucleotide polymorphisms (SNPs) by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). The results showed no significant differences in the frequency of DAZL AG (P = 0.58) and MTHFR CT (P = 0.44) between oligozoospermic infertile men and controls. However, 8% (8/100) oligozoospermic infertile men harbored both the variants and showed significantly (P<0.0001) lower sperm count (3.28 ± 1.1 vs 12.50 ± 4.09) compared to infertile men with either of the single variant. None of the fertile controls showed the presence of the both variants. In conclusion, the combined effect of both DAZL 260A>G and MTHFR 677C>T variants may have role in compromised sperm count. However, further studies are required to find the pathological role of these combined variants in male infertility.en_US
dc.identifier.citationKumar Kishlay, Venkatesh S, Sharma P R, Tiwari P K, Dada Rima. DAZL 260A>G and MTHFR 677C>T variants in sperm DNA of infertile Indian men. Indian Journal of Biochemistry & Biophysics. 2011 Dec; 48(6): 422-426.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/140210
dc.language.isoenen_US
dc.source.urihttps://nopr.niscair.res.in/handle/123456789/13254en_US
dc.subjectMale infertilityen_US
dc.subjectDAZL 260A>Gen_US
dc.subjectMTHFR 677C>Ten_US
dc.subjectOligozoospermicen_US
dc.subjectSingle nucleotide polymorphismen_US
dc.subject.meshBase Sequence
dc.subject.meshDNA Primers
dc.subject.meshHumans
dc.subject.meshInfertility, Male --genetics
dc.subject.meshMale
dc.subject.meshMethylenetetrahydrofolate Reductase (NADPH2) --genetics*
dc.subject.meshPolymerase Chain Reaction
dc.subject.meshPolymorphism, Restriction Fragment Length
dc.subject.meshRNA-Binding Proteins --genetics
dc.subject.meshSpermatozoa --ultrastructure
dc.titleDAZL 260A>G and MTHFR 677C>T variants in sperm DNA of infertile Indian men.en_US
dc.typeArticleen_US
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