一个Ⅲ型手足裂畸形家系拷贝数变异的研究  

Identification of a pathogenic microduplication in a Chinese split hand/foot malformation family

作　　者：刘雅萍[1] 黄颖之[1] 杨威[1] 张学[1] 

机构地区：[1]中国医学科学院基础医学研究所医学遗传学系,北京100005

出　　处：《中华医学遗传学杂志》2014年第3期276-279,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金青年科学基金项目（81000783）

摘　　要：目的鉴定一个手足裂畸形家系患者的致病突变。方法应用AffymetrixSNP6．0芯片对家系中的先证者进行全基因组拷贝数变异分析；通过基因组DNA实时荧光定量PCR对家系中患者进行突变验证。结果在先证者中发现10q24区域内一个约560kb的微重复；实时荧光定量PCR证实家系患者均携带该微重复。结论10q24区域内约560kb重复很可能导致了该家系患者手足裂畸形的发生。Objective To identify the potential pathogenic mutation in a Chinese family with split hand/foot malformation （SHFM）. Methods Affymetrix SNP 6.0 array was used to perform a genome-wide copy number variations scan, and quantitative real-time PCR （qPCR） was applied to validate the identified genumic duplication. Results A ～560 kb microduplication on the chromosome 10q24 was identified. The qPCR assay confirmed the presence of this microduplication in all the available affected family members. Conclusion The ～560 kb microduplication is the pathogenic mutation underlying the SHFM phenotype in the study family.

关 键 词：手足裂畸形 微重复 10q24区域 

分 类 号：R596[医药卫生—内科学]