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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 infertility couples male infertility factors in the proportion of major genetic factors, guide eugenics genetic counseling. Methods From October 2014 to September 2016, we visited the Family Planning Specialized Hospital of Guangdong Province to exclude female infertility factors and entered the infertile couples assisted reproductive technology. On the man at the same time the peripheral blood chromosome examination, AZF gene test, analysis of the results and the relationship between the two. Results Among 2255 infertile men, 499 chromosomal abnormalities were detected with an abnormal chromosomal abnormality rate of 22.13%. 225 cases of AZF were deleted and AZF deletion rate was 9.98%. Eighty-eight chromosomal abnormalities with AZF deletion and major genetic factors accounted for 28.38%. 344 cases of Kirschner’s disease, accounting for 68.94% of the karyotype of chromosomal abnormalities, and no patients with AZF deletion were found. The AZF deletion rates of patients with XY, Yqh +, Yqh-, del (Y) (q11) and del (Y) (q12) were 7.57%, 3.85%, 32.50%, 100% and 81.82%, respectively. Conclusions Among infertile couples with infertility, the main male genetic factors are chromosomal abnormalities and AZF deficiency. The genetic causes of azoospermia and oligospermia should be clarified before assisted reproductive technology to avoid the genetic effect. Kirschner’s syndrome is the most common in infertile men with chromosomal abnormalities, but none of the cases of Kirschner’s disease seen in the study have a combined absence of AZF. The loss of q chromosome Y11 is likely to merge AZF deletion, part of Yqh- is not a simple polymorphism.