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目的研究人类染色体多态性的遗传效应,分析染色体多态性与临床效应的关系。方法对5052例患者外周血进行培养获得淋巴细胞中期分裂相,常规制片G、C显带进行核型分析。结果从遗传咨询者5052例中检出染色体多态性438例,其中Y染色体长度变异246例,占多态性的56.17%;D、G组短臂增长57例,占多态性的13.01x%;9号染色体臂间倒位58例,占染色体多态性的13.24%;副缢痕增长71例,占染色体多态性的16.21%。结论染色体多态性与临床效应有一定的关系,临床医生应高度重视。
Objective To study the genetic effect of human chromosome polymorphism and analyze the relationship between chromosome polymorphism and clinical effect. Methods Peripheral blood of 5052 patients was cultured to obtain metaphase of lymphocytes, and conventional preparation of G and C bands for karyotype analysis. Results There were 438 chromosomal polymorphisms detected in 5052 cases of genetic counseling, of which 246 cases were Y chromosome length variation, accounting for 56.17% of the total, and 57 cases in D and G group were short arm growth, accounting for 13.01x %; In chromosome 9, 58 cases were inversed in the arm, accounting for 13.24% of the chromosome polymorphism; 71 cases of palatal incision increased, accounting for 16.21% of the chromosome polymorphism. Conclusion Chromosome polymorphism has some relationship with clinical effect, clinicians should attach great importance.