1例伴神经性耳聋的Werner综合征患者WRN基因突变研究  

Mutation Analysis in WRN Gene in a Patient with Werner Syndrome accompanied by Nerve Deafness

作　　者：任军[1,2] 刘晓坤[2] 李新生[2] 王晓慧[2] 王官清[2] 陈婷婷[2] 曾抗[1] 

机构地区：[1]南方医科大学南方医院皮肤科,广东广州510515 [2]厦门大学附属中山医院皮肤科,福建厦门361004

出　　处：《皮肤性病诊疗学杂志》2012年第6期339-342,351,共5页Journal of Diagnosis and Therapy on Dermato-venereology

摘　　要：目的:检测1例伴神经性耳聋Werner综合征患者的WRN基因突变情况。方法:收集1例伴神经性耳聋Werner综合征患者及其亲属的外周血标本,提取其外周血总RNA进行RT-PCR,将cDNA产物测序;提取患者外周血基因组DNA进行PCR,将DNA产物测序验证突变,以同样方法检测其1例亲属及30例健康对照。结果:患者WRN基因发现4处碱基改变:内含子2967+237 A>G和3309+26C>T、同义突变c.2361 G>T和c.3237 G>A。结论:该例伴神经性耳聋Werner综合征患者存在WRN基因2个内含子SNP和2个已报道cSNPs。Objective：To detect the WRN gene mutations in a Chinese patient with Werner syndrome （WS）. Methods： Blood samples were collected from a sporadic patient with WS, his brother and 30 normal controls. The RNA and DNA were extracted from the blood, and the eDNA sequences of whole WRN gene were amplified by RT-PCR . The DNA sequence of related regions were amplified by PCR and the possible mutations were confirmed by direct sequencing. Results： （2967 ＋237 A 〉 G and 3309 ＋ 26 C 〉 T of introns, synonymous mutation c. 2361 G 〉 T and c. 32.37 G 〉 A） were found in the WRN gene of the patient and these SNPs were also observed in part of the 30 normal control individuals, Condusion：Two SNPs of introns and two cSNPs repor- ted before are present in the WRN gene of the sporadic patient with Werner syndrome.

关 键 词：WERNER综合征 WRN基因 突变 感音性神经性耳聋 编码区单核甘酸多态性 

分 类 号：R596.1[医药卫生—内科学]