淮河流域71例Down综合征患者的细胞遗传学分析

Cytogenetic Analysis of 71 Cases of Down Syndrome in Drainage Area of Huaihe River

目的探讨Down综合征患者的细胞遗传学基础。方法采用具有典型Down综合征临床特征的疑似患者的外周血进行淋巴细胞培养、染色体制片、G显带处理、核型分析。结果71例疑似患者均确诊为Down综合征患者。其中,65例为游离型,占91.6%;易位型为4例,占5.6%;嵌合型为2例,占2.8%。结论染色体检查对Down综合征的诊断是决定性的,并且可以快速准确确诊Down综合征的遗传学类型。在Down综合征患者中,游离型占90%以上,而易位型和嵌合型仅占很少的比例。对高危人群应采用STR多态位点结合DNA定量分析进行基因诊断。

Objective To probe the cytogenetic base on Down Syndrome patients. Methods The lymphocytes were cultured by using the peripheral and umbilical blood of like sufferer with the typical model clinical characteristic of Down Syndrome, chromosomes were produced and chromosome＇ s G-banding was disposed and the types of chromosome were analyzed. Results All of the 57 like sufferer were diagnosed as Down syndrome patients. The types of chromosome in patients were divided into 65 cases （91.5%） of trisomy 21,4 cases（5.6% ）of translocation and 2 cases（2.8% ） of mosaic. Conclusions The chromosome check is decisive to the diagnosis of Down syndrome, and a quickly accurate method of diagnosing the genetics type of Down syndrome. Over 90% of patients with Down syndrome is Trisomy 21 ,while translocation and mosaic are seldom. In high-risk group,STR polymorphism loci and quantitative analysis of DNA can be used for prenatal diagnosis.