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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 type of GLA gene mutation in a family of clinically diagnosed Fabry’s disease pedigrees and investigate the relationship between genotypes and phenotypes. Methods The clinical data of this Fabry family were collected and the peripheral blood genomic DNA of this pedigree was extracted. The 7 exons of GLA gene and its adjacent regions were amplified by PCR and sequenced, and were clinically evaluated. Results The sequencing analysis of PCR products showed that there was one mutation in the pedigree, located in exon 5, with a mutation of c.717-718delAA. Conclusion Gene detection is an important method to diagnose Fabry’s disease. It can be found that carriers in Fabry’s family provide the basis for prenatal diagnosis, and help to analyze the relationship between genotype and phenotype.