摘要
目的研究人类染色体多态性的遗传效应,分析染色体多态性与临床效应的关系。方法对5052例患者外周血进行培养获得淋巴细胞中期分裂相,常规制片G、C显带进行核型分析。结果从遗传咨询者5052例中检出染色体多态性438例,其中Y染色体长度变异246例,占多态性的56.17%;D、G组短臂增长57例,占多态性的13.01x%;9号染色体臂间倒位58例,占染色体多态性的13.24%;副缢痕增长71例,占染色体多态性的16.21%。结论染色体多态性与临床效应有一定的关系,临床医生应高度重视。
Objective： To study the genetic effcts of human chromosome polymorphism analysis of the chromosome polymorphism and clinical effect. Methods： 5052 cases in peripheral blood of patients with culture to obtain lymphocyte metaphases phase, conventional producers G, C, banding karyotype analysis. Results： From genetic counseling in 5052 cases in the detdction of chromosome polymorphism in 438 cases, in which the Y chromosome length variation in 246 cases, for the 56. 17% polymorphisms; D, G group of short arm growth in 57 cases, for the 13.01% polymorphism; pericentric inversion of chromosome 9 in 58 cases, for the 13.24% polymorphisms ; secondary constriction growth in 71 cases, for the 16. 21% polymorphisms. Conclusion ： chromosome polymorphism and clinical effect to a certain extent, the clinician should pay attention to.
出处
《中国优生与遗传杂志》
2012年第8期58-59,49,共3页
Chinese Journal of Birth Health & Heredity
关键词
染色体多态性
临床效应
异染色质
Chromosomal polymorphism
Clinical effect
Heterochromatin
