染色体多态性与临床效应及生殖关系的探究

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1 414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。

The relationship between clinical outcomes of reproduc-tive abnormalities and chromosome polymorphism

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 abnor- malities. 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.