一个BDC家系突变筛查及其结果分析  

Mutation Screening and Result Analysis of A BDC Family

作　　者：陈璐[1] 郑芳[2] 董素芳[3] 

机构地区：[1]华中农业大学医院检验科 [2]武汉大学中南医院,武汉430071 [3]海南医学院

出　　处：《数理医药学杂志》2016年第2期159-161,共3页Journal of Mathematical Medicine

摘　　要：目的:对临床诊断为C型短指症(BDC)的家系进行突变筛查分析,寻找致病基因的分子缺陷,明确其疾病诊断。方法:收集一个BDC家系与11名正常对照,对该BDC的家系与对照样本进行DNA提取后进行GDF5基因扩增后进行直接测序分析。结果:检测到该BDC家系患者GDF5基因:c.826G>T与c.1017A>G变化,c.826G>T可导致276位丙氨酸变为丝氨酸(p.A 276S),而c.1017A>G的氨基酸在339位仍为赖氨酸。c.826G>T位点存在于11名正常对照中,而c.1017A>G位点在6名正常对照中存在。结论:该家系GDF5基因c.826G>T,c.1017A>G两个位点变化可能为与BDC相关的新的SNP位点。Objective:To do mutation screening analysis for the BDC family,find molecular defect of the pathogenic gene and confirm diagnosis.Methods:A BDC family was collected to compare with 11 normal subjects.DNA was extracted from the blood sample of the BDC family and normal subjects.PCR amplifications of GDF5 gene were carried out for these samples.And PCR products were purified and directly sequenced.Results:It was found that GDF5 gene of the BDC family:C.826G>T and C.1017A>G changed.C.826G>T may turn alanine at position 276 to serine(P.A 276S),whereas amino acid at site C.1017A>G was still lysine at position 339.C.826G>T was found in 11 normal subjects and C.1017A>G was found in 6normal subjects.Conclusion:In GDF5 gene of the BDC family,C.826G>T,C.1017A>G may be two new SNP sites associated with BDC.

关 键 词：C型短指(趾)症 GDF5基因 DNA直接测序 突变筛查 

分 类 号：R596.1[医药卫生—内科学]