Gholami Delnya, Jafari-Ghahfarokhi Hamideh, Nemati-Dehkordi Maryam, Teimori Hossien
Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Department of Gynecology, Medical Faculty, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Int J Reprod Biomed. 2017 Nov;15(11):703-712.
Genetic factors are candidates for about 30% of male infertility with sperm production-related abnormalities. Y chromosome microdeletions are responsible for around 10% of male infertility. These microdeletions generally occur in azoospermia factor on the Yq. That is often associated with the quantitative reduction of sperm.
The aim of this cross-sectional study was to determine the frequency of Yq microdeletions among idiopathic azoospermic, oligoasthenozoospermic, and oligospermic men in Shohada infertility center, Chaharmahal va Bakhtiari province.
A total of 81 idiopathic azoospermic, oligoasthenozoospermic, and oligospermic infertile men were selected as cases and 81 fertile men assigned to control group. For molecular investigations, 13 sequence-tagged site markers were chosen from azoospermia factor (AZF) region for detection of Y chromosome microdeletions and amplified by two separate multiplex-polymerase chain reaction. The relationship between the AZF microdeletions and incidence of male infertility in the family, consanguineous parents, smoking, and the levels of reproductive hormones among infertile men were investigated.
The total frequency of the microdeletions was 6.17% (2 cases in azoospermic, 3 cases in oligoasthenozoospermic subgroups, and none in the oligospermic participants and the control group). Most deletions (3.7%) were seen in the AZFb followed by the AZFc (2.46%) and none in AZFa. No significant association was seen between the microdeletions and clinical characteristics.
Although the frequency of Yq chromosome microdeletions in Chaharmahal va Bakhtiari province is lower than the mean frequency of Iran, the frequency is comparable to those reported by some studies in Iran.
遗传因素是约30%与精子生成相关异常的男性不育症的候选因素。Y染色体微缺失约占男性不育症的10%。这些微缺失通常发生在Yq上的无精子症因子区域。这通常与精子数量减少有关。
本横断面研究的目的是确定恰哈马哈勒-巴赫蒂亚里省烈士不孕不育中心特发性无精子症、少弱精子症和少精子症男性中Yq微缺失的频率。
共选取81例特发性无精子症、少弱精子症和少精子症不育男性作为病例组，81例有生育能力的男性作为对照组。为进行分子研究，从无精子症因子（AZF）区域选择13个序列标签位点标记，用于检测Y染色体微缺失，并通过两次单独的多重聚合酶链反应进行扩增。研究了AZF微缺失与男性不育症家族发病率、近亲父母、吸烟以及不育男性生殖激素水平之间的关系。
微缺失的总频率为6.17%（无精子症亚组中有2例，少弱精子症亚组中有3例，少精子症参与者和对照组中均无）。大多数缺失（3.7%）见于AZFb区域，其次是AZFc区域（2.46%），AZFa区域无缺失。微缺失与临床特征之间未发现显著关联。
尽管恰哈马哈勒-巴赫蒂亚里省Yq染色体微缺失的频率低于伊朗的平均频率，但该频率与伊朗一些研究报告的频率相当。
