40例世界首报染色体异常核型与疾病之间关系的临床研究

Clinical study of 40 cases of the first report in the world of chromosome abnormalities karyotype and their clinical relation with disease

目的探讨染色体异常与疾病之间的关系,尤其是世界首报染色体异常核型的检出。方法采用外周血常规72小时培养,G显带技术,必要时显C带,N带,R带以明确诊断。结果我们对4876例患者进行了染色体检查,检出异常染色体593例,染色体异常检出率为12.16%。经中国医学遗传中心鉴定,其中40例为世界首报染色体异常核型。世界首报染色体异常核型占染色体异常的6.75%。结论染色体异常核型检出,可为临床提供诊断依据,根据患者特殊的临床表现,可为疾病基因筛选、基因定位、基因克隆、突变分析提供重要的线索。为提高出生人口素质,阐明遗传病发病机制以及基因诊断奠定坚实的基础,具有深远的意义和研究价值。对我国医学遗传学研究起到了积极的推动作用。

Objective： Discusses the human chromosome abnormal with disease＇s relations, especially first report in the world of the detection of the chromosome abnormalities nuclear. Method： Taking the heparin preventing clotting the circumference blood to carry on the 72 hours lymphocyte raise, G reveals the belt, carrying on the analysis of the chromosome nuclear type, counting 30 fissions, analyzing 3 nuclear types of the abnormal doubles the analysis. When necessity C and R reveals the belt have the analysis. Result ： We have carried 4876 patients coming to get medical examinations on chromosome and discovered 593 examples of unusual chromosome. Chromosome unusual picking out rate is 12. 16%. After appraisal of medical heritage center of China, chromosomes unusual nuclear types of the first report in the world are 40 examples which occupy the chromosome unusual to be 6. 75%. Conclusion： Detection of the chromosome abnormalities nuclear can offer evidence for the clinical diagnosis, and offer important clues to the selection of disease gene, to the fixation and clone of gene, to the drastic analysis, in combination with observation of the patient＇s clinical symptoms. It is significant for the promotion of higher quality of birth, for the clear up of the mechanism of genetic disease. It has played a key role in the promotion of medical genetics studies in our country.