染色体微阵列分析技术在不明原因智力低下患儿中的应用

发布时间：2018-01-22 12:56

本文关键词： 智力低下染色体微阵列分析染色体微缺失染色体微重复基因组学儿童　出处：《山东医药》2017年29期 　论文类型：期刊论文

【摘要】：目的探讨染色体微阵列分析(CMA)技术在不同原因智力低下患儿中的应用效果。方法应用苏州铂金埃尔默公司提供的染色体微阵列芯片CGX-SNP对83例无明显高危因素智力低下儿童进行基因组学研究。CMA分析所发现的染色体微缺失/微重复(CNVs),进一步通过荧光原位杂交或实时荧光定量PCR反应进行验证。结果 38例(45.8%,38/83)患儿检测到染色体异常。单亲二倍体1例(1/38,2.6%),三体2例(2/38,5.3%),短臂单体1例(1/38,2.6%),大片段重复3例(3/38,7.9%),大片段缺失2例(2/38,5.3%),CNVs 29例(29/38,76.3%),检测到携带临床致病性CNVs患儿25例,检出率达30.1%。结论 CMA检查可及时发现智力低下患儿染色体异常,将检出率提高至10%以上。
[Abstract]:Objective to investigate the chromosome microarray analysis (CMA). Methods 83 children with mental retardation without significant risk factors were studied by using chromosome microarray CGX-SNP provided by Elmer Platinum Co., Suzhou. Genomics study. Chromosome microdeletion / microduplication found by CMA analysis (. CNVs. The results were further verified by fluorescence in situ hybridization or real-time fluorescence quantitative PCR reaction. Chromosomal abnormalities were detected in 38 / 83) children. One single parent diploid (1 / 38 / 2.6), two trisomy (2 / 2 / 3 / 38 / 5.3), and one single short arm (1 / 3 / 38 / 2) were detected. Large fragment repeats in 3 cases (3 / 387.9), large fragment deletion in 2 cases (2 / 38 / 5.3), CNVs in 29 cases (29 / 38 / 76. 3). 25 cases of children with clinically pathogenic CNVs were detected, and the detection rate was 30.1%. Conclusion CMA examination can detect chromosomal abnormalities in children with mental retardation in time and increase the detection rate to more than 10%.
【作者单位】：南京医科大学附属儿童医院;
【分类号】：R440;R748
【正文快照】： 智力低下(MR)是指智力损伤发生在发育时期、主要表现为智力明显低于一般人水平,并伴有明显的适应行为障碍[1]。2000年抽样调查报告证实,我国0~6岁儿童智力残疾现患率为0.931%,相当于我国有智力残疾儿童1 300万人,年均发现率为0.133%[2],其中2/3原因不明。有调查发现,引起MR的

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