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
黄金艺 1吴颛 1张艳红 1张永红 1戴铮 2段争芳1
作者信息
- 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
- 折叠
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.
Abstract
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 1184 α-thalassemia genes,467 β-thalassemia genes,and 30 α-β thalassemia genes.These include 46 α-thalassemia genotypes,34 β-thalassemia genotypes,and 16 α-β thalassemia genotypes.At the same time,23 new α-thalassemia gene mutations and 4 new β-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Key words
mediterranean anemia/gene type/gene diagnosis/nextgeneration sequencing引用本文复制引用
基金项目
益阳市科技创新计划项目(2022-108)
出版年
2024
NETL
NSTL
万方数据