摘要
目的探讨染色体多态性与临床效应间可能的关联性。方法检测不良孕产、不孕、不育、智力低下、体检、诊断和畸形组外周血和脐带血染色体共3020例,外周血淋巴细胞培养、收获、制片及G显带,并行染色体核型分析,必要时作N和C显带。结果 1943例有临床症状患者中共检出多态染色体228例,占11.73%。不良孕产史、闭经和不孕、不育三组的检出率在12%左右。诊断组多态染色体检出率为47.19%。结论染色体多态性是不良孕史、闭经和不孕、不育、智力低下、先天畸形的可能病因之一。多态染色体的检出,为患者寻找病因、做计划生育和辅助生殖、避免不必要的人工流产而造成继发不孕不育、防止新发突变染色体患儿的出生等提供了较重要的参考资料。
Objective： To approach the possible association of the polymorphism chromosome with the clinical effect. Methods： Chromosome karyotypes in peripheral blood and cord blood were analyzed after culturing and G - banding in 3020 patients who divided into groups of miscarriage and dead - birth, mental retardation, infertility, health examination, diagnosis and congenital malformation. N -banding and C -banding were proceeded if it is necessary. Results： 228 cases polymorphism chromosome were detected in1943 clinic suffers, the detection rate was 11.73%. The detection rate of three groups, including miscarriage and dead- birth, infertihty is about 12%, and the detection rate of diagnosis group is 47. 19%. Conclusion： polymorphism of chromosome is maybe the cause of miscarriage and dead - birth, mental retardation, infertility and congenital malformation. Detecting chromosome in these high - risk groups above will provide them reference data of searching for etiopathogenisis, proceeding of family planning and aid reproduction, avoiding of unnecessary abortion and induced infertility, and prevention from being bern of new mutation infants.
出处
《中国优生与遗传杂志》
2014年第4期50-53,80,共5页
Chinese Journal of Birth Health & Heredity
关键词
细胞遗传学
核型分析
染色体多态性
Cytogenetics
Karyotype analysis
Chromosomal polymorphism
