101例非缺失型α-地中海贫血基因分析

目的了解非缺失型α-地中海贫血的基因突变类型及构成比,以及其在临床检测的必要性。方法应用PCR-RBD技术和高效液相色谱法(high performance liquid chromatography,HPLC)对受检对象进行非缺失型α-地贫基因分析。结果 374例非缺失型α-地贫待排的受检者中有101例检测到携带该基因,其中ααQS/αα71例、ααWS/αα15例、ααCS/αα12例、ααQS/--SEA1例、ααCS/--SEA1例、ααQS/-α3.71例,大约27%受检者能确诊为非缺失型α-地贫携带。结论初步阐明非缺失型α-地贫的基因突变类型和构成比,提高了α-地贫检出率,为非缺失型a地贫基因检测必要性提供了理论依据。

101 cases Analysis on gene mutation types of Non - deletion a thalassemia in Guangzhou

Objective ： To explore the gene mutation types and constiuent ratio of non - deletion α - thalassemia, and the necessity of genetic testing services of non - deletion α - thalassemia in clinic. Methods ： The gene mutation types and gene frequencies of 374 suspected non - deletion ot thalassemia patients were analyzed by PCR - RDB and high performance liquid chromatography （HPLC）. Results： Among the 374cases, 101 cases were determined, including 71 cases of α^QSα/αα,15 cases of α^WSα/αα, 12 cases of α^CS α/αα, one case of - -SEA//oLQSoL, one case of - -SEA/oLCSoL and one case of -α.7/oLQSoL, About 27% of them are carriers of non - deletion ct thalassaemia. Conclusions ： The gene mutation types and constiuent ratio of non - deletion α - thalassemia are preliminarily clarified, and the results provide a theoretical basis for the genetic testing services of non - deletion α - thalassemia in clinic.