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Affymetrix SNP 6.0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560 kb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560 kb重复很可能导致了该家系患者手足裂畸形的发生.

abstractsObjective 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 gcnomic 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.