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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 clarify the karyotype characteristics of chromosome aberrations and provide a reference for the diagnosis and treatment of human genetic diseases. Methods Peripheral blood was obtained from the subjects for lymphocyte culture. Chromosomes were routinely prepared and G - banding was performed. Fifty metaphases were counted under microscope and 10 karyotypes were analyzed by photomicrography. Results Among 1065 reproductive counselors, the chromosome aberration rate was 15.7%. Which according to the type of distortion, the number of the rate of distortion was 9.9%, the rate of structural aberration was 2.3%, the rate of chromosome polymorphism was 3.5%; according to different chromosomal classification, autosomal aberration rate was 11.7%, the rate of sex chromosome aberration was 4.0% . Conclusions Human autosomes are susceptible to aberrations. The number distortion is the major type of human chromosome aberration. Structural aberrations occur frequently in autosomes. Chromosome polymorphisms are mainly large Y and small Y.