微阵列分析技术检测脑发育迟缓患儿基因拷贝数变异-临床儿科杂志.pdfVIP

临床儿科杂志 第 33 卷第 5 期 2015 年 5 月 J Clin Pediatr Vol.33 No.5 May 2015 · 473 · doi:10.3969 j.issn.1000-3606.2015.05.019 微阵列分析技术检测脑发育迟缓患儿基因拷贝数变异 朱丽娜　王　艳　陈　佳　杨　晓　彭　薇　马秀伟　封志纯 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) 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 结论 1.21 Mb重复，chrXp22.33区域发现99 kb缺失；患儿母亲未检测到CNVs改变。 　SNP array技术有助于进一步明确发 育迟缓患儿的遗传机制。 关键词：　脑发育迟缓；　微阵列单核苷酸多态性；　拷贝数变异 Microarray detection of the copy number variations in a patient with developmental delay　ZHU Lina, WANG Yan, CHEN Jia, YANG Xiao, PENG Wei, MA Xiuwei, FENG Zhichun (Childrens Hospital Affiliated to Clinical Medical College in Beijing Military General Hospital of Second Military Medical University, Beijing 100700, China) Abstract:　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. Key words:　developmental delay;　single nucleotide polymorphisms array;　copy number variants 基因拷贝数变异(copy number variations ，CNVs)