Quan Q, Li T J, Ding X P, Wei J, Li L X, Fu L
Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan-Chongqing, Institute of Medical Genetics, School of Life Science, Sichuan University, Chengdu, China.
Genet Mol Res. 2013 Dec 11;12(4):6512-20. doi: 10.4238/2013.December.11.2.
The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping, and Origin 8.0 was used to analyze the prevalence of abnormalities. Additionally, patients with azoospermia, oligozoospermia, and oligoasthenozoospermia were analyzed using multiplex polymerase chain reaction to detect microdeletion in the AZF. We identified 387 patients with abnormal karyotypes, and the ratio was 7.61%. Among them were 175 patients with Klinefelter's syndrome, which was the most common numerical chromosomal abnormality and accounted for 45.22% of all chromosomal aberrations. The frequencies of increased satellites, balanced translocations, and Robertsonian translocations were 6.47, 7.00, and 3.62%, respectively. Multiplex polymerase chain reaction performed in 810 cases with azoospermia, oligozoospermia, and oligoasthenozoospermia found a ratio of AZF microdeletions of 4.94%. The finding suggests that chromosomal abnormalities and AZF deletion are main factors that result in male infertility. Detecting these common genetic variations is necessary in infertile men seeking assisted reproductive technology.
本研究的目的是检测有生殖问题的男性患者的染色体畸变和无精子症因子（AZF）微缺失，并总结相关临床特征，为评估产前和植入前诊断提供可靠信息。通过G显带核型分析对一大群5083名具有各种男性不育表型的男性进行了分析，并使用Origin 8.0分析异常的发生率。此外，对无精子症、少精子症和少弱精子症患者使用多重聚合酶链反应来检测AZF中的微缺失。我们鉴定出387例核型异常患者，比例为7.61%。其中克兰费尔特综合征患者175例，这是最常见的染色体数目异常，占所有染色体畸变的45.22%。卫星增加、平衡易位和罗伯逊易位的频率分别为6.47%、7.00%和3.62%。对810例无精子症、少精子症和少弱精子症患者进行的多重聚合酶链反应发现AZF微缺失比例为4.94%。该发现表明染色体异常和AZF缺失是导致男性不育的主要因素。对于寻求辅助生殖技术的不育男性，检测这些常见的基因变异是必要的。
