不育夫妇男性遗传因素分析

Analysis of male genetic factors in infertile couples

目的了解不育症夫妇不育因素中男性主要遗传因素所占的比例,指导优生遗传咨询。方法 2014年10月至2016年9月到广东省计划生育专科医院就诊,排除女方不育因素,已进入辅助生殖技术的不育夫妇。对男方同时进行外周血染色体检查、AZF基因检查,分析两者的结果及关系。结果 2255例不育男性,发现499例染色体异常,染色体异常率为22.13%;225例AZF缺失,AZF缺失率为9.98%;其中84例染色体异常合并AZF缺失,主要遗传因素占28.38%。克氏综合症344例,占染色体异常核型的68.94%,未发现合并AZF缺失患者。46,XY、Yqh+、Yqh-、del(Y)(q11)、del(Y)(q12)患者的AZF缺失率分别为7.57%、3.85%、32.50%、100%、81.82%。结论不育症夫妇不育因素中,男性主要遗传因素有染色体异常和AZF缺失,辅助生殖技术前应尽量明确无精子、少精子的遗传原因,避免造成遗传效应。染色体异常的不育男性以克氏综合症最多见,但所见克氏综合症病例均无合并AZF缺失。Y染色体q11丢失很可能合并AZF缺失,部分Yqh-并非单纯多态性改变。

Objective： To understand the proportion of male genetic factors in infertile couples, so as to guide the genetic counseling. Methods： We selected the infertile couples who have excluded the female infertility factors and got treatment in the Guangdong Provincial Family Planning Hospital from October 2014 to September 2016, and finally entered the reproductive technology as the research object. At the same time, the peripheral blood chromosome examination and AZF gene examination were carried out on the man, then analyzed the results and the relationship between the two examinations. Results： In the 2255 cases of infertile men, 499 cases were diagnosed as chromosomal abnormalities and the incidence rate of chromosomal abnormalities was 22.13%; 225 cases were diagnosed as AZF deletion, and the incidence rate of AZF deletion was 9.98%;84 cases were diagnosed as chromosomal abnormalities combined with AZF deletion, and the main genetic factors accounted for 28.38%. 344 cases of Klinefelter syndrome, accounting for 68.94% of chromosomal abnormalities of the karyotype, in which no patient was found out to combine with AZF deletion. The incidence rate of AZF deletion in 46,XY,Yqh＋,Yqh-,del（Y）（q11）, del（Y）（q12）were 7.57%, 3.85%, 32.50%, 100% and 81.82% respectively. Conclusion： The chromosomal abnormalities and AZF deletion were the male genetic factors in infertile couples. To avoid genetic effects, we should find out the genetic reasons of no sperm or less sperm as clear as possible before entering the reproductive technology. The Klinefelter syndrome were the most common karyotype in infertile male, but no patient of Klinefelter syndrome was found out to combine with AZF deletion. Loss of Y-chromosome ql 1 was likely to be associated with AZF deletion, and partial Yqh-was not a simple polymorphism change.