世界首报染色体异常核型的临床遗传学研究

Clinical study of 9 cases of the first report in the world of chromosome abnormalities karyotype and their clinical relation with disease

目的对9例世界首报染色体异常核型与生育异常进行临床研究探讨。方法采用人体外周血淋巴细胞及羊水细胞体外培养,进行染色体常规检查分析[1]。对2003年1月至2014年7月就诊的6442例患者,进行细胞遗传学及临床分析。结果在受检者中共检出413例染色体异常核型,异常发生率为6.41%,其中9例罕见染色体异常核型,经检索国内外文献未见报道。包括染色体平衡易位4例;复杂重排2例;遗传自亲代的衍生染色体1例;新发的突变2例。结论染色体异常是导致育龄夫妇不孕不育、流产、死胎,婴幼儿先天畸形及智力低下等疾病的重要原因。染色体异常核型的检出,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。

Objective： Discusses the human chromosome abnormal with disease＇ s relations, especially first report in the world of the detection of the chromosome abnormalities nuclear. Methods： Taking the heparin preventing clotting the circumference blood to carryon 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. Results： We have carried 6442 patients coming to get medical examinations on chromosome and discovered 413 examples of unusual chromosome. Chromosome unusual picking out rate is 6.41%. After appraisal of medical heritage center of China, chromosomes unusual nucleartypes of the first report in the world are 9 examples which occupy the chromosome unusual to be 2.18%. Conclusion： Detection of thechromosome abnormalities nuclear can offer evidence for the clinical diagnosis, and offer important clues to the selection of diseasegene, 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.