贵阳地区地中海贫血基因突变类型及民族分布特点分析

Gene Mutation Types and Ethnic Distribution Characteristic of Thalassemia in Guiyang

目的:了解贵阳地区α、β-地中海贫血基因突变类型和民族分布特点。方法:对2019年1-11月在贵州中医药大学第一附属医院进行体检、产检、孕前检查的贵阳地区人群,采用RDB-PCR方法检测α、β-地中海贫血基因。结果:4 572例送检样本中,共检出阳性样本346例,地中海贫血基因总携带率为7.57%,其中α-地中海贫血基因携带率为5.42%(248例),β-地中海贫血基因携带率为1.99%(91例),α+β复合型地中海贫血基因携带率为0.15%(7例)。α-地中海贫血基因型以右侧缺失-α;/αα(52.82%)为主,其次是-;/αα(25.00%)和-α;/αα(10.48%);β-地中海贫血基因型以CD17(A→T)(51.65%)为主,其次为CD41-42(-TCTT)(25.27%)和IVS-2-654(C→T)(12.09%)。检出1例αα/ααα;和1例HBB:c.-153C>A(-103 C>A)罕见突变。346例阳性样本中,汉族有264例,少数民族有82例,其中以布依族检出最多,占受检布依族人数的35.80%,其次是苗族(20.54%)。结论:贵阳地区地中海贫血基因类型复杂多样,α-地中海贫血以-α3.7/αα最常见,β-地中海贫血以CD17(A→T)最常见。地中海贫血基因在布依族中携带率高于其他民族,有必要进行定期监测和宣传教育。

Objective: To investigate the genetic mutation types and ethnic distribution characteristics of thalassemia in Guiyang. Methods: The population underwent physical examination, antenatal examination and pre-pregnancy examination in our hospital from January 2019 to November 2019 was selected, and the thalassemia gene was detected by RDB-PCR. Results: Among the 4 572 samples, 346 were positive, and the total carrying rate was 7.57%. The carrying rate of α-thalassaemia gene was 5.42%(248 cases), while β-thalassemia was 1.99%(91 cases), and α+β-compound thalassemia was 0.15%(7 cases). α-thalassaemia genotype with the lack of right side-α;/αα(52.82%) was the most common, followed by-;/αα(25.00%) and-α;/αα(10.48%). β-thalassemia genotype was mainly CD17(A→T)(51.65%), followed by CD41-42(-TCTT)(25.27%) and IVS-2-654(C→T)(12.09%). One case of rare αα/ααα;and one case of rare HBB:c.-153 C>A(-103 C>A) mutation were detected. Among the 346 positive samples, 264 were from the Han nationality and 82 from the ethnic minorities, among which Buyi nationality accounted for the most(35.80%),followed by Miao nationality(20.54%). Conclusion: The gene types of thalassemia in Guiyang are complex and varied.The-α;/αα is the most common genotype of α-thalassemia, while CD17(A→T)(51.65%) is the most common genotype of β-thalassemia. The carrying rate of thalassemia in the Buyi nationality is higher than other nations, it is necessary to carry out regular monitoring and publicity.