Journal
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
Volume 22, Issue 9-10, Pages 361-368Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10815-005-6795-0
Keywords
azoospermia; male infertility; MTHFR; pyrosequencing
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Purpose : To determine whether 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) genotype is associated with male infertility. Methods : Analysis of cytogenetic, Y chromosomal microdeletion assay (Yq), and the C677T and A1298C polymorphisms of the MTHFR gene by pyrosequencing and PCR-Restriction Fragment Length Polymorphism (RFLP) method. SAS 8.1 assessed the statistical risk of MTHFR genotype. Results : The homozygous (T/T) C677T polymorphism of the MTHFR gene was present at a statistically high significance in unexplained infertile men with normal karyotype, instead at no significance in explained infertile men with chromosomal abnormality or Y chromosome deletion. There was no statistically significance of A1298C variation in infertile males. Conclusions : The MTHFR 677TT genotype may be a genetic risk factor for male infertility, especially with severe OAT and non-obstructive azoospermia in unexplained infertile males.
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