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目的分析染色体多态变异与生殖异常之间的关联。方法按常规方法抽取被检者外周血进行淋巴细胞培养,经G显带进行染色体核型分析。结果 1392例生殖异常夫妇共检出129例,其中1,9,16号染色体次缢痕增加8例,D.G组短臂核随体区延长27例,9号染色体臂间倒位4例。大Y(Y≥18)58例,小Y(Y≤21)32例,变异检出率9.3%。结论染色体结构多态变异与生殖异常关系密切,在优生遗传咨询过程中应引起高度重视,对多次生育异常者应进行染色体检查,结合分子细胞遗传学技术,进一步了解导致生殖异常的机制。
Objective To analyze the association between polymorphism and reproductive abnormalities in chromosomes. Methods Peripheral blood was collected from the subjects for lymphocyte culture by routine methods and analyzed by G banding. Results A total of 129 cases were detected in 1392 cases of reproductive abnormalities. Among them, 9 cases of chromosomes 1, 9 and 16 were increased in 8 cases, while in group D.G, 27 cases were extended with the short arm and 4 cases were reversed in the 9th arm. There were 58 cases of large Y (Y≥18) and 32 cases of small Y (Y≤21), the detection rate of variation was 9.3%. Conclusion Chromosome structural polymorphism is closely related to genital abnormalities. It should be paid more attention in the genetic counseling of eugenics. Chromosome examination should be conducted on those with multiple fertility abnormalities, and molecular cytogenetics should be used to understand the mechanism of genital abnormalities.