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Indian Journal of Biochemistry and Biophysics (IJBB) >
IJBB Vol.48 [2011] >
IJBB Vol.48(6) [December 2011] >
| Title: | DAZL 260A>G and MTHFR 677C>T variants in sperm DNA of infertile Indian men |
| Authors: | Kumar, Kishlay
Venkatesh, S
Sharma, P R
Tiwari, P K
Dada, Rima |
| Keywords: | Male infertility
DAZL 260A>G
MTHFR 677C>T
Oligozoospermic
Single nucleotide polymorphism |
| Issue Date: | Dec-2011 |
| Publisher: | NISCAIR-CSIR, India |
| Abstract: | DAZL (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. |
| Page(s): | 422-426 |
| CC License: |  CC Attribution-Noncommercial-No Derivative Works 2.5 India |
| ISSN: | 0975-0959 (Online); 0301-1208 (Print) |
| Source: | IJBB Vol.48(6) [December 2011]
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