湖北地区1725例不育男性的外周血染色体核型分析

Cytogenetic anomalies in subfertile males in Hubei province

目的研究湖北地区不育男性的细胞染色体异常及染色体多态性的发生情况。方法回顾性分析2006年8月至2011年8月武汉大学人民医院生殖医学中心细胞遗传学实验室1725例不育男性患者的外周血染色体核型分析结果,其中包括严重少精症或无精症患者997例(A组),具有复发性自然流产和反复体外受精/单精子卵泡浆内显微注射-胚胎移植(IVF/ICSI-ET)后结局不良728例(B组)。结果 A组男性的染色体异常发生率为3.81%,无精症男性的染色体异常发生率(4.37%)高于严重少弱精症男性(3.69%)。相互平衡易位和克氏征是最常见的结构和数目异常。其中,88例男性患者被发现为具有染色体多态性,发生率为8.83%。最常见的多态性发生于Y染色体。B组男性中共发现11例染色体异常,发生率为1.51%,11例患者均为结构异常。B组男性中发现53例染色体多态性,发生率为7.28%。最常见的多态性仍发生于Y染色体,发生率为6.59%(48/728)。结论不育症男性的染色体异常和多态性发生率明显较高。Y染色体多态性对于男性生育力有不良影响。应该鼓励不育男性进行全面的遗传学检查。

Objective To identify the prevalence of cytogenetic aberrations in subfertile Chinese males.Methods Chromosomal analysis included 1725 subfertile men from August 2006 to August 2011 at the Cytogenetics Laboratory of the IVF Center at Renmin Hospital of Wuhan University,China.All the males were divided into two groups:Group A(997 cases of severe oligospermia and azoospermia)and Group B(728 cases with history of repeated spontaneous abortion and IVF/ICSI-ET failure).Results The frequency of somatic chromosomal abnormalities detected in our sample was 3.81% in Group A males,and was more prevalent in the azoospermic group(4.37%)than in the oligospermic group(3.69%).Balanced reciprocal translocations(BRT)and Klinefelter syndrome are the most common aberration of the chromosomal abnormalities.88 cases showed polymorphic variations(8.83%)in Group A males,and aberrations in the heterochromatin region of the Y chromosome were the most frequent polymorphism.Chromosomal abnormalities were found in 1.51%(11/728)of RSA men.All 11 cases showed structural aberrations.7.28%(53/728)of Group B males showed polymorphic variations,and Yqh+ was the most frequent polymorphism,identified in 48(6.59%)Group B men.Conclusions The subfertile males definitely have an increased risk to carry a chromosomal abnormality or polymorphisms,and Y chromosome polymorphisms likely has some negative effects on the male reproductive ability.The subfertile males should be encouraged to discuss genetic testing with their healthcare providers.