广西医学Issue(6)：807-809,3.DOI:10.11675/j.issn.0253-4304.2015.06.23
疑为地中海贫血人群3000例β－地中海贫血筛查及基因突变类型分析
β-thalassemia screening and gene mutation analysis among 3 000 suspected β-thalassemia individuals
摘要
Abstract
Objective To determine the distribution of β-thalassemia gene mutations in suspected thalassemia population. Methods PCR amplification and DNA chip reverse dot blot assay were used to determine 17 β-thalassemia gene mutations in 3 000 suspected thalassemia patients.Results Of the 3 000 cases,788 who were identified as β-thalassemia gene mutation carriers(26.27%) included 455 male(57.74%) and 333 female(42.26%).Among the 788 cases,heterozygote,double heterozygote and homozygote cases accounted for 86.93%(685 /788),9.01%(71/788) and 4.06%(32 /788),respectively.CD41-42(-TTCT) site mutation achieved the highest proportion,which accounted for 50.36%(345 /685) in 685 heterozygote cases,71.88%(23 /32) in 32 homozygote cases and 52.11%(37/71) in 71 double heterozygote cases,respectively.There were 10 cases of gene mutations among 788 β-thalassemia gene mutation carriers,and some patients suffered from two or more mutations.CD41-42(-TTCT) owned the highest proportion of the mutation, which accounted for 51.40% (405/788),followed by IVS-II-654(C → T) and -28(A→G),accounting for 17.26%(136 /788) and 13.96%(110/788),respectively.Conclusion The proportion of β-thalassemia gene mutation carriers is high among suspected β-thalassemia population.Thalassemia screening should be recommended in routine physical examination,premarital test and pregnancy test to reduce the birth rate of children with thalassemia major.关键词
β-地中海贫血/基因突变/反向点杂交/体检人群Key words
β-thalassemia/Gene mutation/Reverse dot blot/Physical examination population分类
医药卫生引用本文复制引用
陈善昌,汤伟光,胡静云,陈栋,彭小媚..疑为地中海贫血人群3000例β－地中海贫血筛查及基因突变类型分析[J].广西医学,2015,(6):807-809,3.基金项目
广西科学研究与技术开发计划项目 （）
