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目的:探讨聚合酶链反应-单链构像多态性分析对于筛选Anderson Fabry病患者的应用价值。方法:对52例肥厚型心肌病患者GLA基因的7个外显子行聚合酶链反应,其扩增产物行单链构像多态性分析。对有条带异常者的所有产物行测序分析,并测定其α-半乳糖苷酶A活性。对确诊的患者,以同样的方法筛选其家系成员。结果:1例患者的第一外显子的第1170位碱基由G突变为A。其α-半乳糖苷酶A活性明显低下,证实为该病患者。该突变使5′端非蛋白质编码区序列发生改变,通过影响mRNA的翻译过程而导致该病。结论:聚合酶链反应-单链构像多态性分析可作为Anderson Fabry病的有效筛选手段。
Objective: To investigate the value of polymerase chain reaction-single strand conformation polymorphism in the screening of patients with Anderson Fabry disease. Methods: Seven exon of GLA gene of 52 patients with hypertrophic cardiomyopathy were subjected to polymerase chain reaction (PCR). The amplified products were analyzed by single strand conformation polymorphism. All products with abnormal bands were sequenced and their α-galactosidase A activity determined. For the diagnosed patients, their pedigree members are screened in the same way. RESULTS: The 1’70th base of the first exon of one patient changed from G to A. Its α-galactosidase A activity was significantly lower, confirmed as patients with the disease. This mutation causes a change in the sequence of the 5 ’non-protein coding region and causes the disease by affecting the translation process of mRNA. Conclusion: Polymerase chain reaction-single strand conformation polymorphism analysis can be used as an effective screening method for Anderson Fabry disease.