两个新发现的致Fabry病基因突变位点  

Two novel mutations of GLA gene in Chinese patients with Fabry disease

作　　者：安贵鹏[1] 安丰双[1] 张运[1] 邹永新[2] 张澄[1] 姜红[1] 冯进波[1] 王荣[1] 

机构地区：[1]教育部和卫生部心血管重构与功能研究重点实验室山东大学齐鲁医院心内科,济南250012 [2]山东大学医学遗传学研究所

出　　处：《中华心血管病杂志》2007年第3期212-215,共4页Chinese Journal of Cardiology

摘　　要：目的研究中国汉族人群 Fabry 病的致病基因突变位点,分析基因型与临床表现型的关系。方法临床诊断的 Fabry 病先证者两例,分别收集各先证者及其家系成员的 DNA 样本。聚合酶链式反应扩增 DNA 样本的7个外显子及其相邻序列,对扩增产物进行测序分析。对基因改变阳性者,分析其临床表现与基因改变的关系。结果在两个先证者的5′非蛋白质编码区分别发现G1168A、G1170A 突变,而正常对照在该位点未发现异常。在一先证者的家族成员中,发现了3个致病突变携带者。而在另一先证者的家系成员中,未发现致病突变携带者,故该先证者为一散发病例。女性杂合子有一定程度的酶活性残留,其临床症状轻于男性患者。结论 GLA 基因的5′非蛋白质编码区参与了该病的发生。性别在一定程度上决定了该病的临床表现。Objective To observe the disease-causing GLA gene mutations in Chinese patients with Fabry disease and the correlation between the genotype and phenotype. Methods DNA from 2 Chinese patients with Fabry disease and their relatives were collected. The seven exons and conjunctional regions of GLA gene were amplified with polymerase chain reaction and the products were sequenced. The correlation between the genotype and phenotype was analyzed. Results Two mutations, Gl168A and G1170A, located in 5＇untranslated regions（5＇UTR） were identified in the two probands and the two mutations were absent in normal controls. Three patients with the same genotype were found in the pedigree with G1168A mutation and there was no gene mutation carrier in the pedigree with G1170A mutation. Symptoms of the disease are less in female patients than that in male patients. Conclusion GLA gene mutation in 5＇UTR may also be involved in the disease process of patients with Fabry disease and the phenotype is partly affected by gender.

关 键 词：溶酶体贮积病 基因 突变 

分 类 号：R596[医药卫生—内科学]