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目的通过1684对不良孕产史夫妇染色体核型与多态性的关系分析,探讨遗传因素对临床优生遗传咨询的指导。方法取外周血进行培养、制片及G显带进行染色体核型分析。结果 1684对夫妇染色体核型分析,发现异常核型304例,阳性率为9.0%。其中,染色体结构和数目异常70例,染色体多态性变异234例,占异常总数的77.0%。多态性变异包括次缢痕增长93例,Y染色体变异85例,D/G组随体变异28例,9号染色体倒位28例。结论染色体异常及其多态性与不良孕产史有密切的关系,因此,染色体核型的检查分析应作为优生常规项目,以降低先天性缺陷儿的出生。
Objective To analyze the relationship between karyotypes and polymorphisms of couples with unhealthy maternity history through 1684 and to explore the genetic factors guiding the clinical counseling of eugenics. Methods Peripheral blood was taken for culture, producer and G banding for karyotype analysis. Results 1684 pairs of chromosomes karyotype analysis found that 304 cases of abnormal karyotype, the positive rate was 9.0%. Among them, chromosome structure and number of abnormalities in 70 cases, 234 cases of chromosome polymorphism, accounting for 77.0% of the total number of anomalies. Polymorphism included 93 cases of secondary stenosis, 85 cases of Y chromosome aberration, 28 cases of D / G and 28 cases of inverted chromosome 9 on chromosome 9. Conclusion Chromosomal abnormalities and their polymorphisms are closely related to the history of adverse pregnancy. Therefore, the examination and analysis of chromosomal karyotype should be taken as a regular project of eugenics to reduce the birth of children with congenital defects.