应用多重连接依赖探针扩增和微阵列比较基因组杂交技术检测不明原因智力障碍患儿  

Application of MLPA and a CGH technology in the detection of unknown causes of mental retardation in child

作　　者：张丹妍[1,2] 冯雪菲[3] 戴礼猛 朱一剑 赵乐天 杨柳 李练兵 张雨平[3] 白云[2] 马明福 

机构地区：[1]重庆市人口和计划生育科学技术研究院,国家卫计委出生缺陷与生殖健康重点实验室,重庆400020 [2]中国人民解放军第三军医大学遗传学教研室,重庆400038 [3]中国人民解放军第三军医大学新桥医院儿科,重庆400037

出　　处：《中国优生与遗传杂志》2017年第2期11-12,46,F0003,共4页Chinese Journal of Birth Health & Heredity

基　　金：重庆市科学技术委员会基本科研项目(项目编号:2015-cstc-jbky-01703、2015-cstc-jbky-01708)

摘　　要：目的应用多重连接依赖探针扩增(MLPA)技术和微阵列比较基因组杂交(aCGH)技术检测不明原因智力障碍患儿。方法针对临床上经过常规检查、遗传代谢病氨基酸和酰基肉碱谱分析、外周血染色体核型等未见明显异常的精神发育迟缓(智力评分70分)患儿,通过MLPA技术及aCGH技术对患儿进行检测。结果经过SALSA MLPA P245 Kit染色体微缺失检测试剂盒检测,提示MECP2/Xq28复制。对患儿的基因组DNA进行aCGH检测,提示CNV重复。经过两种技术,患儿诊断为智力障碍,病因为MECP2基因复制引起。结论应用MLPA技术联合aCGH技术可诊断不明原因智力障碍患儿。Objective：This study combined with multiplex ligation dependent probe amplification（MLPA）and array comparative genomic hybridization（aCGH） technology in clinical diagnosis of children with unexplained mental retardation. Method：A mental retardation child（IQ score 70）found no obvious abnormal after the clinic examination such as routine examination,genetic and metabolic diseases,amino acids and acylcarnitines spectrum analysis,peripheral blood karyotype. We chose the MLPA technology and aCGH technology to detect the child. Results：After the SALSA MLPA P245 Kit chromosome microdeletion detection kit,the results prompt that MECP2/Xq28 replication. Detect the DNA of the child by aCGH technology,and the result indicate that CNVreplication. After two kinds of techniques,the child was diagnosed as mental retardation,and the disease was caused by MECP2 gene duplication. Conlusion：Application of combined aCGH and MLPA technology can diagnosedthe children with unexplained mental retardation.

关 键 词：多重连接依赖探针扩增技术 微阵列比较基因组杂交技术 智力障碍 

分 类 号：R440[医药卫生—诊断学] R749.94[医药卫生—临床医学]