贵州地区α-地中海贫血基因诊断

Gene diagnosis of α-thalassemia in Guizhou

目的:探讨α-地中海贫血(α-地贫)基因诊断的临床应用价值。方法:采用单管多重PCR技术及反向点杂交技术,对95例可疑α-地贫患者进行基因分析。结果:95例患者中检出37例α-地贫,检出率为38.9%。共检出6种突变基因型,其中--SEA/αα占56.8%,-α3.7/αα占27.0%;检出的4种突变等位基因按发生频率由大到小排列为:--SEA、-α3.7、-α4.2和-αCS,其中--SEA占60.0%,-α3.7占30.0%。结论:基因诊断是确诊α-地贫准确可靠的方法,贵州地区α-地贫基因突变类型以缺失型为主。

Objective：To explore the clinical application value of gene diagnosis of α-thalassemia. Methods：Gene analysis was conducted among 95 suspicious cases of α-thalassemia by single-tube multiplex PCR and reverse dot-blot hybridization technique. Results：Among 95 suspicious cases of α-thalassemia,37 cases were found with α-thalassemia,the detection rate was 38.9%.6 kinds of mutation genotypes were detected,the proportions of--^SEA/αα and-α^3.7/αα were 56.8% and 27.0%,respectively.The four mutant alleles detected could be listed as follows according to the frequency from high to low：--^SEA,-α^3.7,-α^4.2 and-αCS,the proportions of--^SEA and-α^3.7 were 60.0% and 30.0%,respectively. Conclusion：Gene diagnosis is a accurate and reliable method to diagnose α-thalassemia,the main gene mutant type of α-thalassemia in Guizhou is deletion type.