Biology Department Islamic Azad University (IAU), Science & Research Branch, Tehran, Iran.
Indian J Med Res. 2010 Sep;132:265-70.
BACKGROUND & OBJECTIVES: Genetic factors contribute about 10 per cent of male infertility. Among these, genes in azoospermia factor (AZF) region including AZFa, AZFb, AZFc and AZFd on the long arm of Y chromosome are considered most important for spermatogenesis. Deletions in these regions are thought to be involved in some cases of male infertility associated with azoospermia or oligozoospermia. We studied the incidence of AZF deletions among Iranian infertile men with idiopathic non-obstructive azoospermia.
A total of 100 Iranian azoospermic infertile men were selected for the molecular study of Y chromosome microdeletions. The presence of 13 sequence tagged site (STS) markers from AZF region was investigated using multiplex polymerase chain reaction (M-PCR). One hundred fertile men were also studied as control group.
Twelve (12%) patients showed Y chromosome microdeletions and among these, deletion in AZFb region was the most frequent (66.67%) followed by AZFc (41.67%), AZFd (33.33%) and AZFa (8.33%), respectively.
INTERPRETATION & CONCLUSIONS: Because of relatively high incidence of Y chromosome microdeletions among Iranian azoospermic patients, molecular screening may be advised to infertile men before using assisted reproductive treatments.
遗传因素约占男性不育的 10%。在这些因素中，Y 染色体长臂上的无精子症因子（AZF）区域中的基因，包括 AZFa、AZFb、AZFc 和 AZFd，被认为对精子发生最重要。这些区域的缺失被认为与某些与无精子症或严重少精子症相关的男性不育症有关。我们研究了伊朗特发性非梗阻性无精子症不育男性中 AZF 缺失的发生率。
选择了 100 名伊朗无精子症不育男性进行 Y 染色体微缺失的分子研究。使用多重聚合酶链反应（M-PCR）研究了来自 AZF 区域的 13 个序列标记位点（STS）标记的存在。还对 100 名健康男性进行了研究作为对照组。
12 名（12%）患者显示 Y 染色体微缺失，其中 AZFb 区域缺失最常见（66.67%），其次是 AZFc（41.67%）、AZFd（33.33%）和 AZFa（8.33%）。
由于伊朗无精子症患者中 Y 染色体微缺失的发生率相对较高，在使用辅助生殖治疗之前，可能建议不育男性进行分子筛查。
