PP148. ASSOCIATIATION BETWEEN POLYMORPHISM OF THE MITOCHONDRIAL DNA POLYMERASE GAMMA GENE (POLG) AND MALE INFERTILITY AMONG MACEDONIAN POPULATION
P. NOVEVSKI1, T. Plaseski2, B. Kocevska2, C. Dimitrovski2, G.D. Efremov1, D. Plaseska-Karanfilska1 1 Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Republic of Macedonia; 2 Clinic of Endocrinology and Metabolic Disorders, Faculty of Medicine, Skopje, Republic of Macedonia e-mail: dijana@manu.edu.mk
*Corresponding Author:
page: 114

Abstract

The catalytic subunit of the human mitochondrial DNA polymerase gamma (POLG) is encoded by the POLG gene, which is located on chromosome 15q24 and includes a polymorphic CAG repeat. Analysis of POLG genotypes in some populations identified an association between the absence of the ten CAG repeat allele and male infertility, excluding severe oligozoospermia and azoospermia. It was also suggested that POLG gene polymorphism should be considered as a possible contributing factor in cases with idiopathic subfertility with normal spermiograms. The aim of this study was to examine the polymorphism in the POLG gene among infertile/subfertile men form the Republic of  Macedonia. We studied 180 infertile/subfertile men (69 men with azoospermia, 48 with severe oligozoospermia, 25 with mild oligozoospermia and 38 individuals with unexplained infertility and normal sperm counts) and a control group of 123 proven fathers. The methodology included fluorescent PCR and analysis on ABIPrism 310 Genetic Analyzer. The homozygous mutant POLG genotype (≠10/≠10) was found both among infertile/subfertle men and fertile men. Two (2.9%) ‘homozygous mutants’ were found among azoospermic patients, one (2.6%) among normozoospermic patients and two (1.6%) among fertile controls. In conclusion, our study does not confirm any relationship between the polymorphic CAG repeat in the POLG gene and male infertility/subfertility.




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