一个Fabry病家系的GLA基因突变分析  

Molecular Genetic Analysis of a Hypertensive Family with Atypical Fabry Disease

作　　者：韩战营[1] 张奎星[1] 张敏芳[2] 徐筱琪[2] 钱家麒[2] 黄薇 朱鼎良[1] 

机构地区：[1]上海市第二医科大学附属瑞金医院上海市高血压研究所,上海200025 [2]上海市第二医科大学附属仁济医院 [3]国家人类基因组南方中心

出　　处：《高血压杂志》2003年第5期423-426,T001,共5页Chinese Journal of Hypertension

基　　金：国家 8 6 3计划资助项目 ( 1 0 2 - 1 0 - 0 2 - 0 3Z1 9- 0 1 - 0 3-0 1A)

摘　　要：目的　对一个临床诊断的非典型Fabry病患者进行α半乳糖苷酶基因 (GLA)进行突变分析。方法　抽取患者家系中 4名成员的外周血基因组DNA ,PCR分段扩增位于Xq2 2的GLA基因的 7个外显子 ,产物纯化后直接进行DNA测序检测突变。结果　测序显示 ,男性患者GLA基因的第 6外显子存在CGA3 0 1CAA(Arg3 0 1Gln)突变 ,该患者为带有突变基因的半合子 ,母亲为携带突变基因的杂合子 ,哥哥及父亲为CGA3 0 1野生型的半合子。结论　对临床诊断的Fabry病患者及其亲属 ,进行GLA基因突变检测可以进行基因诊断 。Objective To screen the mutation(s) in alpha galactosidase (α Gal; EC 3.2.1.22) gene (GLA) on chromosome Xq22 in a male patient with atypical Fabry disease. Methods Peripheral blood samples were collected from all the four members of this family. Total genomic DNA was prepared for genetic analysis. Polymerase chain reaction (PCR) was used for amplifying all the seven exons of the GLA gene. PCR products were purified and subjected to direct DNA sequencing. Results Genetic analysis of the GLA gene in the male patient revealed a missense mutation of CGA (Arg) to CAA (Gln) at codon 301 in the patient, indicating that a hemizygote with mutated GLA gene. The same mutation was found in the gene analysis of his mother, who is heterozygous. This mutation was not found in the other two family members. Conclusion (1)Screening for specific mutations of GLA gene in patients with Fabry disease and their relatives can identify unrecognized cases within families. (2)A missense mutation in the GLA gene was found in this family.

关 键 词：FABRY病 α—半乳糖苷酶 GLA基因突变 

分 类 号：R544.1[医药卫生—心血管疾病]