【摘要】 目的调查研究佛山地区育龄人群稀有β地中海贫血(β地贫)基因突变的类型。方法对近4年来佛山市第一人民医院送检的育龄人群(年龄21岁～43岁,均为佛山籍户口)的血液标本,进行常规的地贫血液学表型分析和地贫基因诊断,其中以反向点杂交法初筛出β地贫患者,另外对常规基因检测不能确诊的基因突变进行β珠蛋白基因序列测定。结果共发现了8种稀有的β地贫基因突变:IVS-II-2(-T)、CD37(TGG>TAC)、CD89-93(-AGTGAGCTGCACTG)、CD19(AAC>AGC)、PolyA(AATAAA>AATGAA)、CD106(CTG>GTG)、CD29(GGC>GAC)和CD22(GAA>GGA)。另外尚有3例可疑β地贫样本经测序分析仍未能检出β地贫。结论佛山地区育龄人群中β地贫的基因突变分布非常广泛而且类型比较丰富。更多还原

【Abstract】 Objective To investigate the mutation types of the rare β-thalassemia gene among productive-age people in Foshan area. Methods Blood specimens of reproductive-age people(local residents,21 ～ 43 years old) were collected from Foshan first people’s hospital in recent 4 years for routine hematology phenotype analysis and gene diagnosis of thalassemia. Reverse dot blot hybridization assay was used for primary screening of β-thalassemia. β globin DNA sequencing was used to determine those which were not confirmed by routine gene detection. Results A total of eight kinds of rare β-thalassemia mutations were found: IVS-II-2(-T),CD37(TGG > TAC),CD89-93(-AGTGAGCTGCACTG),CD19(AAC > AGC),PolyA(AATAAA >AATGAA),CD106(CTG >GTG),CD29(GGC >GAC) and CD22(GAA >GGA). In addition,β-thalassemia was not detected in 3 suspicious β-thalassemia samples by sequencing analysis. Conclusion The β-thalassemia gene mutations showed diverse types and wide distribution among reproductive-age people in Foshan area.更多还原