1个Fabry病家系GLA基因突变研究  

Gene mutation of GLA in a family with Fabry disease

作　　者：刘冬梅[1] 冯建军 杨学磊[3] 李玉静[4] 张艳君[3] 赵宗峰[3] 

机构地区：[1]石河子大学医学院生物化学与分子生物学系,新疆石河子832000 [2]上海市浦东医院骨科,上海201200 [3]新疆维吾尔自治区人民医院临床医学研究中心,乌鲁木齐830001 [4]河南科技大学第三附属医院妇产科,河南洛阳471000

出　　处：《中华实用诊断与治疗杂志》2013年第8期756-758,761,共4页Journal of Chinese Practical Diagnosis and Therapy

摘　　要：目的分析1个临床诊断为Fabry病家系成员的GLA基因突变类型,探讨基因型与表现型的关系。方法收集该Fabry病家系的临床资料,提取该家系成员外周血基因组DNA,对GLA基因的7个外显子及其邻近区域进行分段PCR扩增和测序分析,并进行临床评估。结果 PCR产物测序分析发现该家系有1个突变,位于第5外显子,突变类型为c.717-718delAA。结论基因检测是确诊Fabry病的重要方法,可发现Fabry家系中的携带者,为产前诊断提供依据,有助于分析基因型与表现型的关系。Objective To analyze the gene mutation in the alpha-galactosidase （α-GaD A gene in a family with Fabry disease and to explore the correlation between genotype and phenotype. Methods The clinical data of a family with Fabry disease were collected. Genomic DNA was isolated from the family members and the entire α-Gal A coding region and flanking sequences were amplified by using PCR technique and analyzed by automated sequencing. Results c. 717- 718delAA mutation in exon 5 was identified in this family. Conclusion Gene detection is an important method for Fabry disease and can find carriers in Fabry family, which provides the basis of prenatal diagnosis and helps the analysis of the correlation between genotype and phenotype.

关 键 词：FABRY病 GLA基因 基因突变 基因型 表现型 

分 类 号：R596[医药卫生—内科学]