染色体畸变核型分析.doc

染色体畸变核型分析.doc染色体畸变核型分析
作者:范洪孟凡荣高秀敏程鸿瑜邸文治
【摘要】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,%。其中按畸变类型分类,%,%,%;按染色体不同分类,%,%。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。
【关键词】染色体;遗传;畸变
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【Abstract】 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 ethod,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 %. Distorting of them by type, the rate of number aberration is %, the rate of the structure aberration is % and the abnormal rate of the chromosome polymorphism diversity is %. Distorting of them by chromosome, the rate of the euchromosome aberration is % and the rate of the sex chromosome aberration is %. 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. 
【Key osome;Herectity;Aberration
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人类体细胞核内有23 对染色体, 其中常染色体22 对、