No CAG repeat expansion of polymerase gamma is associated with male infertility in Tamil Nadu, South India

Indian Journal of Human Genetics
J Poongothai

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 influenc...Continue Reading

References

Sep 10, 2004·The Journal of Clinical Endocrinology and Metabolism·C KrauszG Forti
Jun 21, 2006·Archives of Dermatological Research·Hiroshi NagaiChikako Nishigori
Jun 30, 2006·Reproductive Toxicology·Alberto FerlinCarlo Foresta
Apr 17, 2008·Reproductive Biomedicine Online·Francesca Nuti, Csilla Krausz
May 27, 2009·Indian Journal of Urology : IJU : Journal of the Urological Society of India·Poongothai J Sakthivel, Manonayaki Swaminathan
Mar 23, 2010·Human Reproduction Update·Paulo Navarro-CostaCarlos E Plancha

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Citations

Aug 27, 2011·Journal of Assisted Reproduction and Genetics·Dang-Xia ZhouHong Tian
Mar 30, 2012·Journal of Assisted Reproduction and Genetics·Min Jee KimHyoung-Song Lee
Apr 28, 2012·Journal of Assisted Reproduction and Genetics·Carolina AlmeidaAlberto Barros
Jun 26, 2012·Journal of Assisted Reproduction and Genetics·Kyle J LehmannMarc Anthony Fischer
Aug 31, 2010·Asian Journal of Andrology·R John Aitken, Adam J Koppers
Jul 1, 2010·Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research·Moussa Alkhalaf, Kamal Al-Shoumer
Jan 1, 2009·Bioinformation·Karthikeyan Pallipalayam PeriyasamyArunachalam Annamalai
Jul 24, 2014·PloS One·Amirtharaj FrancisKumarasamy Thangaraj

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Methods Mentioned

BETA
PCR
electrophoresis
genotyping

Software Mentioned

Genescan
Statistical
GeneMapper

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