Al-Achkar Walid, Wafa Abdulsamad, Moassass Faten
Division of Human Genetics, Department of Molecular Biology and Biotechnology, Atomic Energy Commission of Syria, Damascus, Syria.
Biomed Rep. 2013 Mar;1(2):275-279. doi: 10.3892/br.2012.40. Epub 2012 Nov 21.
Infertility is an important health issue affecting numerous couples. Approximately 30-50% of the cases of male infertility is due to unknown reasons. The main genetic factors involved in male infertility are chromosomal abnormalities and Y chromosome microdeletions within the Yq11 region. The genes controlling spermatogenesis located in the Yq11 region are termed azoospermia factor genes (AZF). Klinefelter syndrome (KS) is the most common of the chromosomal anomalies in the infertile male. AZF microdeletions on the Y chromosome are the most frequent genetic cause of male infertility. Screening for microdeletions in the AZFa, b and c regions of the Y chromosome showed a marked variation among different studies. The present study aimed to investigate the prevalence of such deletions in Syrian men. A total of 162 infertile males (97 azoospermic, 49 oligospermic and 16 severely oligospermic) were screened for chromosomal abnormalities and Y chromosome microdeletions using 28 markers in the AZF region. Twenty (12.34%) patients had chromosomal rearrangements, 17 of them showed sex chromosome abnormalities (11 of 17 patients within the azoospermic group had a KS of 64.7%), 2 patients had apparently balanced autosomal rearrangements, while 1 patient had an inversion. Of the 162 infertile men, 46 patients (28.4%) had Y chromosome microdeletions within the AZF-regions. Most frequently hit were the AZFc (34.8%), followed by the AZFbc, AZFa, AZFac, AZFbc, AZFb, AZFd, AZFab, AZFad, AZFbd, AZFabc and the AZFbcd. Combined AZF deletions involving three regions with chromosomal abnormalities were observed in one case. The higher frequency of AZF deletions in our study was comparable with frequencies in other countries and regions of the world, possibly due to the elevated number of the sequence-tagged site (STS) markers used for this screening.
不孕不育是一个影响众多夫妇的重要健康问题。大约30%-50%的男性不育病例病因不明。男性不育涉及的主要遗传因素是染色体异常和Yq11区域内的Y染色体微缺失。位于Yq11区域控制精子发生的基因被称为无精子症因子基因（AZF）。克兰费尔特综合征（KS）是不育男性中最常见的染色体异常。Y染色体上的AZF微缺失是男性不育最常见的遗传原因。对Y染色体AZFa、b和c区域微缺失的筛查在不同研究中显示出显著差异。本研究旨在调查叙利亚男性中此类缺失的患病率。使用AZF区域的28个标记物对162名不育男性（97名无精子症患者、49名少精子症患者和16名严重少精子症患者）进行染色体异常和Y染色体微缺失筛查。20名（12.34%）患者存在染色体重排，其中17名显示性染色体异常（无精子症组的17名患者中有11名患有KS，占64.7%），2名患者有明显平衡的常染色体重排，1名患者有倒位。在162名不育男性中，46名患者（28.4%）在AZF区域存在Y染色体微缺失。受影响最频繁的是AZFc（34.8%），其次是AZFbc、AZFa、AZFac、AZFbc、AZFb、AZFd、AZFab、AZFad、AZFbd、AZFabc和AZFbcd。在1例中观察到涉及三个区域的联合AZF缺失与染色体异常。本研究中AZF缺失的较高频率与世界其他国家和地区的频率相当，这可能是由于用于此次筛查的序列标签位点（STS）标记数量增加所致。
