地中海贫血基因诊断和产前诊断的研究

目的:建立地中海贫血(地贫)的基因诊断和产前诊断方法,探讨云南人群地贫的基因突变类型。方法:运用多重PCR和PCR-RDB杂交技术对174例疑似患者分别进行α地贫和β地贫的基因诊断,对25例地贫高风险胎儿进行产前诊断。结果:在174例疑似地贫患者中检出地贫基因突变133例,其中α珠蛋白基因突变50例,β珠蛋白基因突变83例;在25例胎儿中检出1例HbH-CS病胎儿、1例HbBart’s胎儿水肿综合征,均诊断后引产,另有6例轻型α地贫携带者胎儿和8例β地贫携带者胎儿足月分娩。结论:应用多重PCR和PCR-RDB技术能够快速、有效地检出76.4%云南地贫疑似病例的基因突变,可作为常规基因诊断和产前诊断方法;云南人群的β地贫基因突变热点及发生率可能与国内其他地区不同,有必要进一步扩大云南的地中海贫血筛查研究。

Study on genetic diagnosis and prenatal diagnosis of thalassemias

Objective:To establish efficient and accurate methods for genetic diagnosis and prenatal diagnosis of thalassemia and investigate the types of gene mutation of both α-and β-thalassemias within populations in Yunnan Province.Methods:Multiplex polymerase chain reaction (mPCR) and PCR-reverse dot blot hybridization (PCR-RDB) techniques were applied for the genetic diagnosis of α-and β-thalassemias in 174 individuals with suspected thalassemia.Prenatal diagnosis was performed to 25 couples at risk of having thalassemia fetuses.Results:133 in the 174 individuals were found having hemoglobin gene mutations,among them,50 cases had α-hemoglobin gene mutations,other 83 cases had β-hemoglobin gene mutations.The prenatal diagnosis revealed that one fetus with intermediate α-thalassemia (HbH-CS) and one fetus with Hb Bart's who were artificial labor after diagnosis,6 fetuses with mild α-thalassemia and 8 fetuses with β-thalassemia who were term delivery.Conclusion:76.4% of the 174 individuals with suspected thalassemia are quickly and efficiently conformed by mPCR and PCR-RDB techniques,which demonstrated that these techniques could be used as clinical routine tests for genetic diagnosis and prenatal diagnosis of thalassemia.The mutation hotspots of β-thalassemia and their incidences in Yunnan populations may differ from those in the populations in other parts of China.More studies seem to be necessary to explore the gene mutations of thalassemia in Yunnan populations.