
CAG REPEAT POLYMORPHISM OF THE MITOCHONDRIAL
DNA POLYMERASE GAMMA GENE IN MACEDONIAN
INFERTILE AND FERTILE MEN Plaseski T1,2, Noveski P1, Dimitrovski C2, Efremov GD1,
Plaseska-Karanfilska D1 *Corresponding Author: *Corresponding Author: Dr. Dijana Plaseska-Karanfilska, Macedonian Academy of Sciences and Arts,
Research Center for Genetic Engineering and Biotechnology, Av. Krste Misirkov 2, POB 428, 1000
Skopje, R. Macedonia; Tel.: +389-2-3235-410; Fax: +389-2-3115-434; E-mail: dijana@manu.edu.mk page: 37
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DISCUSSION
Whereas two related studies have indicated a relation ship between the presence of the not10/not10 genotype and oligo(astheno)zoospermia [3] and unexplained sub fertility [7], we have found the homozygous mutant geno type to have a similar frequency in infertile/subfertile patients and fertile controls. We observed no significant difference in the distribution of the three POLG genotypes (homozygous wild, heterozygous and homozygous mutant) in our five subgroups of patients (azoospermia, severe oligozoospermia, mild oligozoospermia, normozoospermia and known cause of infertility). These results agree with those of three other studies [8-10], and suggest that the POLG CAG polymorphism does not play a significant role in male infertility/subfertility. Similarly in vitro studies have shown that deletion of the CAG repeat has no detect able effect on mitochondrial function [16]. A recent meta-analysis presenting a summary of the polymorphisms that have been associated with male fertility, also revealed no significant association between POLG polymorphism and male fertility [2]. In conclusion, we have found no associa tion between polymorphism of the POLG gene and infer tility in Macedonian men.
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