染色体畸变核型分析

Analyse of the distortion karyotype of the chromosome

目的明确染色体畸变核型特点,为人类遗传性疾病的诊治提供参考依据。方法取受检者外周血,进行淋巴细胞培养,常规制备染色体,G显带,镜下计数50个中期分裂相,显微摄影分析10个核型。结果在1065例生殖咨询者中,染色体畸变率为15.7%。其中按畸变类型分类,数目畸变率为9.9%,结构畸变率为2.3%,染色体多态性畸变率为3.5%;按染色体不同分类,常染色体畸变率为11.7%,性染色体畸变率为4.0%。结论人类常染色体易发生畸变,数目畸变是人类染色体畸变的主要类型,结构畸变多发生在常染色体中,染色体多态性以大Y和小Y为主。

Objective To make it clear of the characteristic of the distortion karyotype of the chromosome,provding the reference for the human hereditary disease diagnosis.Methods Peripheral lymphocyte were detected by cytogeneties method,G-banding.Assayed karyotype under micrope,take count of 50metaphase,analysed 10 karyotype.Results In 1065 cases of generation consultants,the rate of chromosome aberration is 15.7%.Distorting of them by type,the rate of number aberration is 9.9%,the rate of the structure aberration is 2.3% and the abnormal rate of the chromosome polymorphism diversity is 3.5%.Distorting of them by chromosome,the rate of the euchromosome aberration is 11.7% and the rate of the sex chromosome aberration is 4.0%.Conclusion The human euchromosome easy to have the distortion.All of them,the predominant type of the humanity chromosomic aberration is the number distortion.The structure distortion often occurs in the euchromosome.The primary chromosome polumorphism is Y-chromosome and y-chromosome.