56例生长障碍患儿单核苷酸多态性基因芯片检测结果分析  

Gene array analysis in 56 cases of children with growth retardation

作　　者：付春云[1] 陈少科[1] 陈荣誉[1] 范歆[1] 罗静思[1] 李川[1] 

机构地区：[1]广西壮族自治区妇幼保健院遗传代谢中心实验室,广西南宁530003

出　　处：《临床儿科杂志》2014年第12期1119-1121,共3页Journal of Clinical Pediatrics

摘　　要：目的探讨生长障碍患儿的分子遗传学基础。方法 2013年1月至12月采集56例生长障碍患儿的外周血并提取DNA,进行单核苷酸多态性基因芯片(SNP-array)检测。结果 56例患儿中12例(21.4%)有致病性拷贝数异常,性染色体异常6例,常染色体异常6例;4例(7.1%)有常规染色体核型分析无法检出的致病性微缺失或重复片段,其大小<2.5 Mb。结论 SNP-array技术可作为生长障碍患儿遗传学诊断的有效方法。Objective To investigate the genetic basis of the children with growth retardation. Methods From January to October 2013, the 56 patients with growth retardation were enrolled in this study. Genomic DNA was extracted from peripheral blood and was analyzed with gene array chips. Results Abnormalities were found in 12 patients （6 cases of sex chromosome abnormalities and 6 cases of autosomal aberration） and the detection rate was 21.4%. Four patients had the copy-number variations of smaller than 2.5Mb in size which could not be found by karyotyping analysis. Conclusions SNP-array gene chip could be used in the genetic diagnosis of growth retardation.

关 键 词：生长障碍 染色体异常 单核苷酸多态性基因芯片 

分 类 号：R725.9[医药卫生—儿科] R394[医药卫生—临床医学]