No CAG repeat expansion of polymerase gamma is associated with male infertility in Tamil Nadu, South India.
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Date
2014-07
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Abstract
Mitochondria contains a single deoxyribonucleic acid
(DNA) polymerase, polymerase gamma (POLG) mapped
to long arm of chromosome 15 (15q25), responsible for
replication and repair of mitochondrial DNA. Exon 1 of the
human POLG contains CAG trinucleotide repeat, which
codes for polyglutamate. Ten copies of CAG repeat were
found to be uniformly high (0.88) in different ethnic groups
and considered as the common allele, whereas the mutant
alleles (not -10/not -10 CAG repeats) were found to be
associated with oligospermia/oligoasthenospermia in male
infertility. Recent data suggested the implication of POLG
CAG repeat expansion in infertility, but are debated. The
aim of our study was to explore whether the not -10/not
-10 variant is associated with spermatogenic failure. As
few study on Indian population have been conducted so
far to support this view, we investigated the distribution
of the POLG CAG repeats in 61 infertile men and 60
normozoospermic control Indian men of Tamil Nadu, from
the same ethnic background. This analysis interestingly
revealed that the homozygous wild type genotype (10/-
10) was common in infertile men (77% - 47/61) and in
normozoospermic control men (71.7% - 43/60). Our
study failed to confirm any influence of the POLG gene
polymorphism on the efficiency of the spermatogenesis.
Description
Keywords
Infertility, normozoospermia, polymerase gamma
Citation
Poongothai J. No CAG repeat expansion of polymerase gamma is associated with male infertility in Tamil Nadu, South India. Indian Journal of Human Genetics. 2013 July-Sept ;19 (3): 320-324.