OP12. PARTIAL AZFc DELETIONS IN MACEDONIAN INFERTILE MEN
DIJANA PLASESKA-KARANFILSKA1, T. Plaseski2, P. Noveski1, C. Dimitrovski2, B. Kocevska2,G.D. Efremov1 1. Macedonian Academy of Sceinces and Arts, Research Cener for Genetic Engineering and Biotechnology, Skopje, R. Macedonia 2.Clinic of Endocrinology and Metabolic Disorders, Faculty of Medicine, Skopje, R. Macedonia e-mail: dijana@manu.edu.mk
*Corresponding Author:
page: 40

Abstract

Y microdeletions involving AZFc region in the distal Yq are the most frequent genetic cause of male infertility. Recently, attention has turned to partial deletions of the AZFc region. The relationship between these deletions, reduced sperm count and male infertility is the subject of a continuing intense debate. Here we studied the occurrence of partial AZFc deletions among men from the Republic of Macedonia. We studied 155 infertile males with absent or reduced sperm counts (74 with azoospermia, 51 with oligozoospermia <106/ml and 30 with oligozoospermia >106/ml), 40 normozoospermic individuals with unexplained couple infertility and 241 fertile controls (proven fathers). The methodology included PCR analysis of several AZFc specific sequence tagged site (STS) markers; analysis of DAZ and CDY1 specific single nucleotide variants (SNV) by PCR and restriction fragment length polymorphism (RFLP); and analysis of the DAZ gene copy number by quantitative fluorescent (QF)-PCR. We found 11 men with gr/gr deletion, 3 with b2/b4 duplication and gr/gr deletion and 4 men with b2/b3 deletion. The highest incidence of gr/gr deletions (3/40; 7.5%) was observed in the normozoospermic men with unexplained infertility (p=0.028; in comparison with 4/241 or 1.7% of fertile men). The frequency of gr/gr deletions with loss of CDY1b SNV was significantly higher in the normozoospermic men with unexplained infertility (3/40; 7.5%; p=0.0005) when compared to the fertile controls (1/241; 0.4%). Our data suggest that gr/gr deletions involving loss of CDY1b SNV due to deletion or conversion might represent a risk factor for reduced fertility among normozoospermic men.




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