5067例不孕不育患者的染色体核型结果分析

Karyotype analysis of 5067 infertile patients

目的 :分析不孕不育患者的染色体核型检查结果 ,探讨染色体核型与不孕不育间的关系。方法 :采集不孕不育患者的外周血进行淋巴细胞培养,用常规方法收获细胞、制片、G显带,必要时行C显带处理,最后行染色体核型分析。结果:5 067例不孕不育患者中有107例检出染色体异常,检出率为2.11%;207例发现染色体多态性,检出率为4.09%,两者的检出率均高于正常人群。男、女间的染色体异常检出率相似,但男性的性染色体数目异常率高于女性(22.43%比1.87%),而女性则多见低比例嵌合,差异均有统计学意义(P<0.05)。染色体次溢痕增加和9号染色体倒位检出率较高(构成比分别为43.48%和25.60%),染色体多态性对生殖的负面影响需引起关注。结论:染色体异常或多态性是导致不孕不育及不良孕产史的重要原因之一,在不孕不育患者中其发生率均高于正常人群。

Objective： To detect and analyze the chromosome karyotype in infertile patients. Methods： Lymphocyte culture and harvesting was performed according to the standard method, karyotypes were analyzed by G- banding in all cases and C-banding in some cases in addition. Results： One hundred and seven cases were detected having abnormal karyotypes from all 5 067 infertility cases and the detection rate was 2.11%, 207 cases were detected having polymorphism and the positive rate was 4.09%, both were higher than those among normal population. The incidence of chromosomal abnormalities was similar between males and females, however, the abnormal sex chromosome number had a higher positive rates in men than in women, while there was more low level mixed chimerism in women （P〈0.05）. In addition, there were higher detection rates of chromosome secondary constriction and chromosome 9 inversion. The negative impact of polymorphism on reproduction should be paid attention. Conclusions： Chromosomal abnormalities or polymorphism is one of the important causes for infertility and history of adverse pregnancy.