广东人群中α珠蛋白基因多拷贝频率分布研究

Study on the frequency and distribution of multi⁃copy of Alpha gene in Guangdong population

目的调查广东人群中α珠蛋白基因多拷贝的变异类型及分布频率。方法采用靶向二代测序方法(next⁃generation sequencing,NGS)对广东六个城市的2310对夫妇(4620例样本)的珠蛋白基因型进行分析,采用多重连接探针扩增技术(multiplex ligation⁃dependent probe amplification,MLPA)对NGS分析提示有α珠蛋白基因多拷贝的样本进行验证。结果经NGS和MLPA双重分析发现92例样本携带α珠蛋白基因多拷贝,基因型为αααanti3.7/αα的45例,αααanti4.2/αα的47例。结论在4620例样本中发现92例携带珠蛋白基因多拷贝,广东人群中的携带率约为1.99%。

Objective To investigate the variation and frequency of multiple copies ofα⁃globin gene in Guangdong population.Methods Next⁃Generation Sequencing(NGS)was used to analyze the globin genotypes of 2310 couples(4620 samples)in six cities in Guangdong.Multiplex ligation⁃dependent probe amplification(MLPA)was used to verify samples that multi⁃copy of theα⁃globin gene indicated by NGS detection.Results Double analysis of NGS and MLPA revealed that 92 samples carried multiple copies of theα⁃globin gene,45 cases genotype wereαααanti3.7/αα,and 47 cases wereαααanti4.2/αα.Conclusions Among 4620 samples,92 cases are found to carry multiple copies of the globin gene,and the carrier rate in the Guangdong population are about 1.99%.