外周血淋巴细胞染色体核型分析在男性染色体异常诊断中的作用

目的 探讨外周血淋巴细胞染色体核型分析对诊断男性染色体异常的有效性和必要性.方法 对2013年1月至2014年12月期间1332例临床有生育异常病史的男性,抽取外周静脉血3 ml,分离淋巴细胞进行培养,固定、制片、显带,分析染色体核型.结果 在1332例有生育异常病史的男性中,异常染色体315例,占受检者的23.65%,包括常染色体异常233例,性染色体异常82例.其中常染色体数目异常58例,结构异常76例,性染色体数目异常30例,结构异常10例,染色体多态性改变141例,分别占异常核型18.41%、24.13%、9.52%、3.18%、44.76%.结论 基于外周血淋巴细胞的染色体核型分析可及时发现生育期男性染色体异常,对于提升优生优育水平有非常重要的作用.

Roles of chromosomal karyotype analysis of peripheral blood lymphocytes in the diagnosis of male sex chromosome abnormalities

Objective To explore the significance and necessity of chromosomal karyotype analysis of periph-eral blood lymphocytes in the diagnosis of male sex chromosome abnormalities. Methods A total of 1332 male pa-tients with a history of abnormal birth history between January 2013 and December 2014 were selected. Peripheral ve-nous blood (3 ml) was extracted, and lymphocytes were isolated, cultured, fixed, and produced, banded for karyotype analysis. Results A total of 315 cases of abnormal karyotypes were found in the 1332 samples, which accounted for 23.65%out of total subjects, including 233 cases of autosomal abnormalities, 82 cases of sex chromosome abnormali-ties. Among autosomal abnormalities, there were 58 cases of chromosome number abnormality and 76 cases of structural abnormality, accounting for 18.41%, 24.13%. Among the sex chromosome abnormalities, there were 30 cases of chromo-some number abnormality, 10 cases of structural abnormality, and 141 cases of chromosomal polymorphism change, which accounted for 9.52%, 3.18%, 44.76%, respectively. Conclusion Karyotype analysis of peripheral blood lympho-cytes could timely detect male sex chromosome abnormality in child-bearing period, which has significant importance for improving the level of prepotency.