宜昌地区染色体多态性与生殖异常的相关性研究

The relationship between chromosome polymorphism and reproductive abnormalities in Yichang district

目的探讨染色体多态性与宜昌地区生殖异常的关系。方法对1182例遗传咨询者进行常规技术制备外周血淋巴细胞染色体,抽取外周血,培养淋巴细胞,G显带,进行染色体核型分析。结果通过核型分析,1182例中检出染色体多态性67例,检出率5.67%(67/1182),常染色体多态性表现为:染色体倒位共10例,占染色体多态的14.93%,其中,inv(1)1例,inv(5)2例,inv(9)7例;染色体次缢痕增加共4例,占染色体多态的5.97%,1qh+3例,9qh+1例。随体增加共18例,占染色体多态的26.87%,其中,13pstk+1例,14pstk+1例,15pstk+10例,21pstk+4例,22pstk+2例。性染色体多态性以男性Y染色体为主,其中,小Y最多,共20例,占染色体多态的29.85%,其次是大Y,共15例,占染色体多态的22.39%。结论宜昌地区染色体多态性检出率较高,其中,Y染色体多态和随体增加多态较高,染色体倒位多态次之。染色体多态性与生殖异常包括不孕不育、流产、死胎等密切相关。

Objective：To explore the relationship between chromosome polymorphism and reproductive abnormality in Yichang district. Methods：A total of 1182 genetic counselors were used to prepare peripheral blood lymphocyte chromosomes. The peripheral blood was collected,lymphocytes were cultured,and the G band was analyzed for chromosome karyotype analysis. Results：Karyotype analysis showed that 67 cases of chromosome polymorphism were detected in 1182 cases. The detection rate was 5.67%（67/1182）. The autosomal polymorphisms were as follows：10 cases of chromosome inversion,accounting for 14.93% of chromosomal polymorphism,1 case of inv（1）,2 cases of inv（5）,7 cases of inv（9）,4 cases of the secondary constriction region lengthened of chromosome,accounting for 5.97% of chromosomal polymorphism,1qh＋ 3 cases,9qh＋ 1 case. 18 cases of the satellite lengthened of chromosome,accounting for 26.87% of chromosomal polymorphism,including 13pstk＋ 1case,14pstk＋ 1 case,15pstk＋ 10 cases,21pstk＋ 4 cases,22pstk＋ 2 cases. Sex chromosome polymorphism was predominantly male Y chromosome,20 cases were small Y,accounting for 29.85% of chromosome polymorphism,followed by 15 cases of big Y,accounting for 22.39% of chromosome polymorphism. Conclusion：The chromosome polymorphism was a higher detection rate in Yichang district,among which,polymorphism of Y chromosome and satellite lengthened of chromosome are higher,and chromosome inversion is second. Chromosome polymorphism was closely related with reproductive abnormalities,including infertility,abortion,stillbirth and so on.