微阵列分析技术检测脑发育迟缓患儿基因拷贝数变异  

Microarray detection of the copy number variations in a patient with developmental delay

作　　者：朱丽娜[1] 王艳[1] 陈佳[1] 杨晓[1] 彭薇[1] 马秀伟[1] 封志纯[1] 

机构地区：[1]第二军医大学北京军区总医院临床医学院附属八一儿童医院,北京100700

出　　处：《临床儿科杂志》2015年第5期473-476,共4页Journal of Clinical Pediatrics

基　　金：国家自然科学基金资助项目(No.81300527)

摘　　要：目的分析发育迟缓患儿基因拷贝数变异(CNVs)与临床表现的相关性。方法应用微阵列单核苷酸多态性(SNP array)分析技术对1例发育迟缓患儿及其临床表型正常的父母亲进行全基因组CNVs分析。结果在患儿chr8p23.3p23.1区域发现7.9 Mb片段缺失,在chr8p23.1p11.23区域发现27.4 Mb片段重复;在患儿父亲chr7q31.1区域发现1.21 Mb重复,chr Xp22.33区域发现99 kb缺失;患儿母亲未检测到CNVs改变。结论 SNP array技术有助于进一步明确发育迟缓患儿的遗传机制。Objective To investigate the copy number variants of a developmental delay patient by applying single nucleotide polymorphisms array technique and to analyze the relationship between the clinical manifestation and copy number variants. Methods Single nucleotide polymorphisms array was used to detect genomic copy number variants in a child with development delay and her phenotypic normal parents. Results The patient had a 7.9-Mb deletion at 8p23.3-p23.1 and a 27.4- Mb duplication at 8p23.1-p11.23, which were confirmed as pathogenic copy number variants after comparative analysis with database. Conclusions Single nucleotide polymorphisms array could serve as a useful method to diagnose developmental delay patients and analyze pathogenesis.

关 键 词：脑发育迟缓 微阵列单核苷酸多态性 拷贝数变异 

分 类 号：R742.8[医药卫生—神经病学与精神病学]