摘要
目的初步了解四川省彝族地区珠蛋白生成障碍性贫血(以下简称地贫)基因缺失突变类型及民族分布特点。方法收集2021年4月-2022年11月研究单位门诊部及住院部红细胞相关参数的分析结果,满足MCV<80 fL;MCH<27 pg;MCV<80 fL和MCH<27 pg标准的标本采用PCR+导流杂交法进行α、β地贫基因检测。结果1128例检出地贫基因携带者546例,阳性率48.40%。检出a-地贫256例(46.89%);β-地贫275例(50.37%);aβ-复合地贫15例(2.75%)。包含8种民族,以汉、彝族为主。其中汉族人群携带率60.76%(429/706);彝族人群携带率24.15%(85/352)。汉族人群携带地贫基因主要为:--SEA/αα、Codon 17(A>T)、CD41-42(-TTCT)、IVS-II-654(C>T)、-α3.7/αα;彝族人群携带率24.15%(85/352),彝族人群携带地贫基因主要为:--SEA/αα、-α3.7/αα、Codon 17(A>T)、CD41-42(-TTCT)、CD26(G>T)、IVS-II-654(C>T)。男性地贫基因携带率49.47%(233/471),女性47.64%(313/657)。结论研究初步发现四川省彝族地区a地贫基因缺失突变型别与其他地方研究情况一致,β-地贫突变型与国内其他区域的缺失突变类型有异同,不同性别研究对象的地贫基因突变情况相同。为四川省彝族地区地贫预防提供了初步依据,也为四川省彝族地区制定地贫预防控制策略提供了参考。
Objective Preliminary understanding of the types of thalassemia gene deleton mutations and ethnic distribution characteristics in the Yi ethnic area of Sichuan Province Methods Collect research specimens from April 2021 to November 2022α、βGene testing for thalassemia.Results 546 cases of thalassemia gene carriers were detected in 1128 cases,with a positive rate of 48.40%.256 cases(46.89%)of a-thalassemia were detected;β-Thalassemia 275 cases(50.37%);αβ-15 cases(2.75%)of compound thalassemia.It includes 8 ethnic groups,mainly Han and Yi.The carrying rate of the Han population is 60.76%(429/706);the carrying rate of the Yi ethnic group is 24.15%(85/352).Preliminary analysis shows that the genotype distribution of thalassemia in the Yi ethnic group of Sichuan Province has unique mutation deletion types in both the Han and Yi ethnic groups.The gene carrying rate of thalassemia in males is 49.47%(233/471),while in females it is 47.64%(313/657).Statistical analysis preliminarily suggests that the gene carrying rate of thalassemia in different genders of the Yi ethnic group in Sichuan Province is the same.Conclusion The study is the first to understand the distribution of thalassemia genotypes in the Yi ethnic area of Sichuan Province,providing a preliminary basis for the prevention of thalassemia in the Yi ethnic area of Sichuan Province,and also providing a reference for the development of prevention and control strategies for thalassemia in the Yi ethnic area of Sichuan Province.
作者
黄静
曹庭菊
余小平
王芳霞
张霞
陈旭
张海
刘士广
周宁希
HUANG Jing;CAO Tingju;YU Xiaoping;WANG Fangxia;ZHANG Xia;CHEN Xu;ZHANG Hai;LIU Shiguang;ZHOU Ningxi(Department of Clinical Laboratory,the First Hospital of Liang Shang,Xichang,Sichuang 615000,China;Department of Clinical Laboratory,the Xichang People′s Hospital,Xichang,Sichuang 615000,China)
出处
《检验医学与临床》
CAS
2024年第S02期76-81,共6页
Laboratory Medicine and Clinic
