疑患遗传病咨询者外周血细胞遗传学分析

GENETIC ANALYSIS OF PERIPHERAL BLOOD CELLS FOR SUSPECTED PATIENTS WITH GENETIC DISORDERS

①目的 对 10 2 9例遗传咨询者进行染色体核型分析 ,为临床诊断提供依据。②方法 对咨询者外周血作淋巴细胞培养 ,制备染色体中期分裂象 ,经G ,C显带处理 ,在高倍光学显微镜下分析分散良好的分裂象 30～10 0个 ,并对染色体异常者进行显微拍照分析。③结果 10 2 9例遗传咨询者共检出异常核型 182例 ,异常核型检出率为 17.6 9% ,其中常染色体异常为 136例 ,占总检出率的 13.99% ;性染色体异常 4 6例 ,占总检出率的 4 .18% ;染色体多态现象 10 4例 ,占总检出率的 10 .11% .④结论 生长发育异常、智力低下、性征异常及存在不良孕产史者异常核型检出率高 ,提示在临床中对发现有上述表现咨询者进行染色体核型分析十分必要。

Objective\ To analyze the chromosome structure of 1029 cases with suspected genetic disorders and provide the evidence for clinical diagnosis.\ Methods\ Lymphocytes of peripheral blood of the suspected patients seeking for advice were cultured and treated with G, chromosome banding techniques. The chromosome was investigated under a light microscope, a microphotography was done for abnormal chromosome. \ Results\ In 1029 cases investigated, 182 cases of chromosome aberration were discovered, the abnormality rate was 17.69%, in which 144 cases were somatic chromosome abnormalities(accounting for 13.99% of the total) , 46 sex chromosome abnormalities(4.18% of the total), and chromosome polymorphism, 104(10.11% of the total). \ Conclusion\ The incidence of chromosome abnormalities was higher among individuals with growth and development retardation, mental retardation, sex character abnormalities. It is necessary to identify the chromosome type of the individuals who seek for advice with above manifestations.