一个先天性手足裂畸形家系的遗传学分析  

Genetic analysis of a pedigree affected with congenital split-hand/foot malformation

作　　者：李茜 童鸣 陈灿明[1] 季亚平[1] 周凯 徐贵江 胡苏玮[1] Li Qian;Tong Ming;Chen Canming;Ji Yaping;Zhou Kai;Xu Guijiang;Hu Suwei(Medical Genetics Center,Yangzhou Maternal and Child Health Care Hospital,the Affiliated Hospital of Yangzhou University Medical College,Yangzhou,Jiangsu 225002,China)

机构地区：[1]扬州大学医学院附属医院/扬州市妇幼保健院医学遗传中心,江苏225002

出　　处：《中华医学遗传学杂志》2020年第4期467-470,共4页Chinese Journal of Medical Genetics

基　　金：江苏省妇幼健康科研项目(F201672);扬州市科技计划项目(YZ2018060)。

摘　　要：目的对1个先天性手足裂畸形家系进行遗传学分析,以鉴定致病性变异。方法提取先证者及家系中其他患者的基因组DNA,应用染色体微阵列技术对患者进行全基因组拷贝数变异分析。结果染色体微阵列分析显示先证者和另外3例患者存在染色体10q24.31-q24.32区域约400 kb的片段重复变异,该重复区域包含完整的LBX1、BTRC、POLL及DPCD基因,并含有FBXW4基因的部分外显子。结论染色体10q24.31-q24.32区域的重复与该家系患者疾病表型共分离,基因组拷贝数变异为患者的致病原因。Objective To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation(SHFM).Methods Genomic DNA of the proband and other affected members was extracted from peripheral blood samples.Chromosomal microarray analysis was employed to detect genome-wide copy number variations(CNVs).Results A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals.The microduplication has involved four genes,namely LBX1,BTRC,POLL and DPCD,in addition with part of FBXW4 gene.Conclusion The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.

关 键 词：手足裂畸形 染色体微阵列 拷贝数变异 

分 类 号：R7[医药卫生—临床医学]