SNP array技术检测自闭症患儿的拷贝数变异  

Performance of SNP array for copy number variation of children with autism

作　　者：王艳[1] 胡平[1] 林颖[1] 张菁菁[1] 刘翠云[1] 许争峰[1] 

机构地区：[1]南京医科大学附属南京妇幼保健院产前诊断中心,南京210004

出　　处：《临床检验杂志》2015年第12期886-888,共3页Chinese Journal of Clinical Laboratory Science

基　　金：国家自然科学基金(81300495);江苏省临床医学重点项目(BL2012039);江苏省妇幼保健科研课题立项项目(F201314)

摘　　要：目的探讨单核苷酸多态性基因芯片(SNP array)技术在自闭症患儿遗传学诊断中的临床应用价值。方法用SNP array技术对45例核型分析未见异常的自闭症患儿进行遗传学检测。结果良性基因组拷贝数变异(CNVs)的检出率为11.1%(5/45)、致病性CNVs的检出率为15.6%(7/45),未检出临床意义不明的CNVs(VOUS)。7个致病性CNVs包括4个微缺失(3p14.2p14.1、3p26.3、16p13.12p13.11、Xp22.2p22.33)和3个微重复(3p26.3、15q11.2q13.3、16p13.11p12.3)。结论 SNP array技术可提高自闭症患儿致病性CNVs的检出率,在自闭症患儿的遗传学诊断中具有较高的临床应用价值。Objective To explore the clinical value of single nucleotide polymorphism（SNP） array in genetic diagnosis of the children with autism. Methods SNP array was performed in 45 children diagnosed as autism whose karyotypes were normal. Results Benign copy number variations（CNVs） of genome were detected in 11.1% （5/45） cases, and pathogenic CNVs were detected in 15.6% （7/ 45） cases. None of variants of unknown significance（VOUS） was detected. Seven pathogenic CNVs included four microdeletions at 3p14.2p14.1, 3p26.3, 16p13.12p13.11 and Xp22.2p22.33, and three microduplications at 3p26.3, 15q11.2q13.3 and 16p13. llp12.3. Conclusion SNP array may increase the detection rate of pathogenic CNVs in the children with autism. SNP array should be considered as a genetic diagnosis method with high clinical value for autism children.

关 键 词：自闭症 微阵列分析 遗传学诊断 拷贝数变异 

分 类 号：R446.9[医药卫生—诊断学]