764例精液异常患者的细胞遗传学分析  

Cytogenetic analysis of 764 patients with abnormal semen

作　　者：郑杰梅[1] 刘之英[1] 夏培[1] 赖怡[1] 魏杨君[1] 刘燕燕[1] 陈久容[1] 秦利[1] 谢良玉[1] 王和[1] 

机构地区：[1]四川大学华西第二医院产前诊断中心及出生缺陷与相关妇儿疾病教育部重点实验室,610041

出　　处：《中国优生与遗传杂志》2017年第2期76-78,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨精液异常与染色体异常及多态的关系。方法选取临床诊断为无精症和少、弱精症的764例男性患者行常规外周血染色体G显带核型分析,同时选取862例正常生育男性作为对照组。结果 764例精液异常患者中,染色体异常发生率为17.06%(130/764),常染色体异常率为2.09%(16/764);性染色体异常率为14.92%(114/764);染色体多态占5.37%(41/764)。精液正常对照组中,常染色体异常率为0.81%(7/862);性染色体异常率为0.58%(5/862);染色体多态性占4.99%(43/862)。精液异常组与精液正常组比较:常染色体异常,有显著性差异(P<0.05);性染色体异常,有显著性差异(P<0.05);多态性,无显著性差异(P>0.05)。结论我们研究提示,性染色数目的异常和Y染色体结构的异常是导致无精症和少、弱精症的一个重要因素,对男性不育患者行染色体检查十分有必要;但染色体多态与生精障碍无明显相关性。Objective：Discussion abnormal semen and chromosomal abnormalities as well as polymorphic relationship. Methods：Select 764 cases of male patients with clinical diagnosis is azoospermia and less weak sperm disease to do normal peripheral blood chromosome G banding karyotype analysis,and select 862 cases of normal fertile men as controls. Results：In the 764 patients with abnormal semen samples,the incidence of chromosomal abnormalities was 17.06%（130/764）,autosomal abnormalities was 2.09%（16/764）;sex chromosome abnormalities was 14.92%（114/764）;chromosome polymorphic accounted for 5.37%（41/764）. And in the semen normal control group,autosomal abnormalities was 0.81%（7/862）;sex chromosome abnormalities was 0.58%（5/862）;chromosome polymorphism accounted for 4.99%（43/862）.Abnormal semen with normal semen group comparison：autosomal abnormalities,there was a significant difference（P〈0.05）;sex chromosome abnormalities,there was a significant difference（P〈0.05）;polymorphism,there was no significant difference（P〉0.05）.Conclusion：Our study suggests that the number of sex chromosome abnormality and Y chromosome structure abnormality is an important factor which lead to azoospermia and less weak sperm disease. Male infertility patients with chromosome examination is necessary. But there was no significant correlation between chromosome polymorphism and impaired spermatogenesis.

关 键 词：无精子症 少、弱精子症 染色体多态性 Y染色体微缺失 

分 类 号：R698.2[医药卫生—泌尿科学] R440[医药卫生—外科学]