益阳市人群地中海贫血分布及遗传学特征  

Distribution and genetic characteristics of thalassemia in Yiyang population

作　　者：黄金艺 吴颛 张艳红 张永红 戴铮 段争芳 HUANG Jinyi;WU Zhuan;ZHANG Yanhong;ZHANG Yonghong;DAI Zheng;DUAN Zhengfang(Birth Defect Prevention and Control Laboratory,Yiyang Maternal and Child Health Hospital,Yiyang 413000,China;Reproductive Medicine Center,Yiyang Maternal and Child Health Hospital,Yiyang 413000,China)

机构地区：[1]益阳市妇幼保健院出生缺陷防控实验室,益阳413000 [2]益阳市妇幼保健院生殖医学中心,益阳413000

出　　处：《华夏医学》2024年第3期168-174,共7页Acta Medicinae Sinica

基　　金：益阳市科技创新计划项目(2022-108)。

摘　　要：目的分析益阳市地中海贫血基因检测阳性率及其变异类型分布特征,为地中海贫血防治工作提供依据。方法将益阳市2021年6月至2023年11月进行地中海贫血基因检测的30042例样本作为研究对象,使用二代测序(NGS)对样本进行基因测序并分析结果。结果30042例样本中共检出1681例地中海贫血基因,检出率为5.59%,包括1184例α-地中海贫血基因、467例β-地中海贫血基因、30例α-β地中海贫血基因。其中包括46种α-地中海贫血基因型、34种β-地中海贫血基因型以及16种α-β地中海贫血基因型。检出新α-地中海贫血基因突变23种,新β-地中海贫血基因突变4种。结论益阳市地中海贫血基因突变类型呈现多样性和复杂性,因此,应加强益阳市地中海贫血的防控力度。Objective To analyze the distribution characteristics of the positive rate and variant types of thalassemia gene detection in 30042 human samples in Yiyang City,so as to provide a basis for the prevention and treatment of thalassemia.Methods 30042 samples from June 2021 to November 2023 in Yiyang City who underwent thalassemia genetic testing were taken as the research objects,and the samples were sequencing by Next-generation sequencing(NGS)and the results were analyzed.Results 1681 thalassemia genes were detected in 30042 samples,with a detection rate of 5.59%,including 1184α-thalassemia genes,467β-thalassemia genes,and 30α-βthalassemia genes.These include 46α-thalassemia genotypes,34β-thalassemia genotypes,and 16α-βthalassemia genotypes.At the same time,23 newα-thalassemia gene mutations and 4 newβ-thalassemia gene mutations were detected.Conclusion The types of thalassemia gene mutations in Yiyang City show strong diversity and complexity,so the application of NGS technology in disease screening and diagnosis should be expanded,and the prevention and control of thalassemia should be further strengthened.

关 键 词：地中海贫血 基因类型 基因诊断 二代测序 

分 类 号：R556.6[医药卫生—血液循环系统疾病]