染色体多态性与临床效应及生殖关系的探究

The relationship between clinical outcomes of reproductive abnormalities and chromosome polymorphism

为了探讨人类染色体结构多态性与生殖异常临床效应的关系,按常规技术方法制备外周血淋巴细胞染色体,经G、C显带,对1414例遗传咨询者进行核型分析,检出异常核型273例。其中多态性变异180例,占65.93%,非多态性异常核型93例,占34.07%。多态性变异包括D、G组短臂增长10例,次缢痕增长(包括1、9和16号染色体)35例,大Y染色体和小Y染色体99例,Y染色体臂间倒位6例,9号染色体臂间倒位30例。结果表明,人类染色体多态性与流产、不孕不育、死胎、生育畸形儿等有相关性。

To study the relationship between chromosome polymorphism and clinical effect of reproductive abnormalities, we prepared chromosomes from peripheral blood lymphocytes and carried out G/C banding and karyotype analyses. Out of 1 414 cases who came in for genetic counseling, 273 had chromosome abnormalities. Among these 273 cases, 180 cases （65.93%） were karyotype variations, with the remaining 93 cases （34.07%） being non-polymorphic chromosomal abnormalities. Karyotype variations included 10 cases of satellite increases in the D/G group, 35 cases of secondary constriction increases, 99 cases of big or small Y chromosome, 6 cases of pericentric inversion of chromosome Y and 30 cases of pericentric inversion of chromosome 9. These results indicated that clinical effect such as abortion, sterility, stillbirth and congenital malformation are mainly related to chromosome polymorphisms.