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

Kishlay Kumar, S. Venkatesh, P. R. Sharma, P. K. Tiwari, Rima Dada

Research output: Contribution to journalArticle

14 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)422-426
Number of pages5
JournalIndian Journal of Biochemistry and Biophysics
Volume48
Issue number6
StatePublished - Dec 1 2011

Fingerprint

Methylenetetrahydrofolate Reductase (NADPH2)
Azoospermia
Spermatozoa
DNA
Polymorphism
Oxidative stress
Sperm Count
Centrifugation
Y Chromosome
Polymerase chain reaction
Male Infertility
Spermatogenesis
Chromosomes
Restriction Fragment Length Polymorphisms
Single Nucleotide Polymorphism
Oxidative Stress
Nucleotides
Genes
Genome
Polymerase Chain Reaction

Keywords

  • DAZL 260A>G
  • Male infertility
  • MTHFR 677C>T
  • Oligozoospermic
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry

Cite this

DAZL 260A>G and MTHFR 677C>T variants in sperm DNA of infertile. / Kumar, Kishlay; Venkatesh, S.; Sharma, P. R.; Tiwari, P. K.; Dada, Rima.

In: Indian Journal of Biochemistry and Biophysics, Vol. 48, No. 6, 01.12.2011, p. 422-426.

Research output: Contribution to journalArticle

Kumar, K, Venkatesh, S, Sharma, PR, Tiwari, PK & Dada, R 2011, 'DAZL 260A>G and MTHFR 677C>T variants in sperm DNA of infertile', Indian Journal of Biochemistry and Biophysics, vol. 48, no. 6, pp. 422-426.
Kumar, Kishlay ; Venkatesh, S. ; Sharma, P. R. ; Tiwari, P. K. ; Dada, Rima. / DAZL 260A>G and MTHFR 677C>T variants in sperm DNA of infertile. In: Indian Journal of Biochemistry and Biophysics. 2011 ; Vol. 48, No. 6. pp. 422-426.
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