少、弱精子症及无精子症患者染色体多态性分析

Chromosomal polymorphic variations in infertile men with oligozoospermia and azoospermia

目的研究少、弱精子症及无精子症患者染色体多态性的发生情况。方法对341例少弱精症及无精症患者(弱精症165例,少精症34例,重度少精症44例,少弱精症79例,无精子症19例)的外周血淋巴细胞进行培养、制片及G显带染色体核型分析。结果染色体多态性改变61例,检出率为17.8%。共分四组:1/9/16 qh+占4.1%,D/G组随体增加占0.29%,inv(9)占0.58%,Y染色体多态性占12.9%。从检出率看多态性以Y+为主,Y+检出率为12.3%,D/G组多态性检出率最低。多态性检出率在弱精中最高9.97%),其次为少弱精(3.51%),重度少精和无精全部为Y染色体多态性。结论少弱精症及无精症患者染色体多态性发生率较高,尤其是大Y染色体多态性明显升高。对该类患者有必要常规做染色体检查,尤其在实施辅助生殖技术之前,以避免将遗传缺陷传递给下一代。

Objective：To investigate the chromosomal polymorphic variations in infertile men with oligozoospermia and azoospermia. Methods：The 341 infertile men including 165 asthenospermia cases,34 oligospermia cases,44 severe oligozoospermia cases,79 oligoasthenospermia cases and 19 azoospermia cases were studied. Karyoptying was performed on peripheral blood lymphocytes by using the Giemsa trypsin banding（GTG）banding technique. Results：Chromosome analysis of 341 infertile males showed chromosome polymorphic variations in 17.8%. It was mainly classified as the following 4 types according to the chromosome polymorphism：（1）with 4.1% in increased chromosome secondary constriction（including chromosome 1,chromosome 9 and chromosome 16）;（2）with 0.29% in increased of the satellite in the D/G group;（3）with 0.58% in inversion of chromosome 9;（4）with 12.9% in chromosome Y. The most common variant observed was Yqh＋（12.3%）,D/G group was the least common polymorphic variation. The incidence of major chromosome polymorphic variations in asthenospermia males were 9.97%,oligoasthenospermic males were 3.51%,severe oligozoospermia and azoospermic males were all chromosome Y. Conclusion：The overall high prevalence of chromosomal polymorphic variation in infertile males with oligozoospermia and azoospermia suggests that the conventional chromosomal analysis is an important investigative tool for male infertility,especially prior to use of any assisted reproductive techniques.