基于二代测序技术的韶关市大规模人群地中海贫血基因筛查分析

Large-scale gene screening analysis of thalassemia population in Shaoguan city using second-generation sequencing technology

目的通过分析广东韶关市人群地中海贫血基因携带率、分布特征等指标,为韶关市科学防控地中海贫血提供依据。方法使用二代测序技术检测韶关市74793例样本地中海贫血基因,其中新生儿样本17433例,高中一年级学生样本25910例,18~45周岁育龄人群样本31450例,对全人群地中海贫血基因携带率、地区分布进行分析。结果74793例全人群地中海贫血基因携带率为18.00%(13463例),其中新生儿人群为17.59%(3067例)、高中一年级学生人群为15.99%(4144例)、18~45周岁育龄人群为19.88%(6252例),组间差异无统计学意义(χ^(2)=4.408,P>0.05);根据地域划分,31450例18~45周岁育龄人群中,10个县(市、区)地中海贫血基因携带率为19.88%,其中最高为新丰县25.22%,其次曲江区为22.40%、翁源县为21.95%、乳源县为20.22%、始兴县为19.72%、仁化县为19.09%、南雄市为19.09%、武江区为18.69%、乐昌市为18.11%,最低为浈江区17.84%。结论韶关地区地中海地贫基因携带率较高,应重点关注携带率较高的新丰、曲江、翁源等地,加强产前筛查。

Objective To analyze the carrier rate and distribution characteristics of thalassemia genes in the population of Shaoguan city,Guangdong province,and provide the scientific reference for the prevention and control.Methods Next-generation sequencing technology was used to analyze the thalassemia genes in 74793 samples,including 17433 newborn samples,25910 samples from high school freshmen,and 31450 samples from the 18-45-year-old reproductive population.The carrier rate and distribution characteristics of thalassemia genes was analyzed.Results The carrier rate of the thalassemia gene in the total population(74793 cases)was 18.00%(13463 cases),including 17.59%(3067 cases)in the neonatal population,15.99%(4144 cases)in the high school freshman population,and 19.88%(6252 cases)in the 18-45-year-old reproductive age group.However,there was no significant difference between the groups(χ^(2)=4.408,P>0.05).Among 31450 individuals aged 18 to 45 years old,the carrier rate of thalassemia gene in 10 counties(cities,districts)was 19.88%,with the highest rate of 25.22%in Xinfeng county,followed by 22.40%in Qujiang district,21.95%in Wengyuan county,20.22%in Ruyuan county,19.72%in Shixing county,19.09%in Renhua county and Nanxiong city,18.69%in Wujiang district,18.11%in Lechang city,and the lowest rate of 17.84%in Zhenjiang district.Conclusion The carrier rate of thalassemia gene in this area was high,and prenatal screening should be strengthened in Xinfeng county,Qujiang district and Wengyuan county.