基底细胞痣综合征中国一家系致病相关基因连锁及突变分析  

Genetic linkage analysis and mutation detection in Chinese families with basal cell nevus syndrome

作　　者：谢卫红[1] 任国欣[1] 李生娇[1] 张静 黄薇 郭伟[3] 

机构地区：[1]上海交通大学医学院附属第九人民医院口腔医学院口腔颌面外科,200011 [2]国家人类基因组南方研究中心 [3]上海交通大学医学院附属第九人民医院.口腔医学院口腔颌面外科,200011

出　　处：《中华口腔医学杂志》2006年第10期596-598,共3页Chinese Journal of Stomatology

基　　金：国家自然科学基金(30471898);上海市科学技术委员会科研计划项目课题基金(03JC14052);上海市重点学科(优势学科)建设基金(Y0203)

摘　　要：目的揭示基底细胞痣综合征中国一个家系发病的分子遗传基础,为家系中的年轻患者实行早期监测和治疗。方法首先选择家系中先证者和其患病母亲及家系中一名健康人,提取外周血 DNA,聚合酶链反应(PCR)扩增 PTCH 基因编码氨基酸的23个外显子,对扩增产物进行 DNA 测序后;采用位于9q22.3-q31区的3个微卫星 DNA 标记对该家系行遗传连锁分析。结果先证者患病母亲 PTCH 基因未发现突变;先证者(V_4)14号外显子发生同义突变;连锁分析显示,在位点D9S283、D9S1690和 D9S1677,Lod 值<-2(θ=0.00)。结论排除了 PTCH 基因作为基底细胞痣综合征该家系致病基因的可能。Objective To study the molecular genetic etiology of a Chinese pedigree with basal cell nevus syndrome. Methods The proband and his affected mother and a unaffected individual in the pedigree were chosen and poriphoralbloed was collected from them for DNA. Direct sequencing was performed to detect the mutations of PTCH gene. In order to further confirm the results of sequence analysis, all available family members were analyzed with genetic linkage analysis using 3 highly polymorphic microsatellite DNA markers in the region of 9q22. 3-q31. Results No mutations of PTCH gene was detected in the proband＇s mother, one synonymous mutation was detected in the proband. Linkage analysis showed that the Lod scroes of the 3 markers were ： D9S283, Z = -2. 11 （θ = 0.00） ; D9S1690, Z = - 2.95 （θ = 0. 00） ; D9S1677, Z = - 5.94 （ θ = 0.00 ）. Conclusions In this pedigree, mutation of PTCH gene is not related to the underlying pathogenesis of the syndrom.

关 键 词：基底细胞痣综合征 系谱 基因 

分 类 号：R596[医药卫生—内科学]