福建省在校医学生地中海贫血基因检测结果分析——以福建卫生职业技术学院学生为例  

Analysis of the Types of Thalassemia Gene Mutations of college students in Fujian Province-Taking the college students of Fujian Health College as an example

作　　者：过丹丹 卢虹[1] 梁观桃 Guo Dandan;Lu Hong;Liang Guantao(The Fujian Health College,Fuzhou,Fujian 350101;The Fuzhou Second Hospital,Fuzhou,Fujian 350007)

机构地区：[1]福建卫生职业技术学院,福建福州350101 [2]福州市第二医院,福建福州350007

出　　处：《基层医学论坛》2021年第31期4550-4551,共2页The Medical Forum

基　　金：福建省中青年教师教育科研项目(科技类)JAT201188。

摘　　要：目的了解我校在校学生α、β-地中海贫血基因携带率及突变类型。方法采用分层随机抽样的方法抽取我校在校不同年级大学生400名,采集外周血进行血常规检测,以MCV<80fl和/或MCH<27pg者为筛查阳性,并对筛查阳性者采用Gap-PCR及PCR-RDB检测α或β-地中海贫血基因。结果400名在校生中筛查阳性率为5.75%(23/400),基因诊断阳性率为4.00%(16/400)。经基因诊断确诊的16例地中海贫血学生中,α-地中海贫血11例,β-地中海贫血4例,αβ复合型地中海贫血1例。其中,α-地中海贫血学生中,--~(SEA)/αα型10例,-α~(3.7)/αα型1例;在β-地中海贫血学生中,基因型均为IVS-Ⅱ-654(C→T)。结论我校医学生地中海贫血基因携带率较高,α-地中海贫血以--~(SEA)/αα基因型最为常见,β-地中海贫血以IVS-Ⅱ-654(C→T)基因型最为常见。Objective To investigate the gene carrier rate and the gene mutation types of α and β-thalassemia on college students in Fujian Health College.Methods 400 college students of different grades were selected by stratified random sampling,and then drawn peripheral blood for routine blood test.The college students whose MCV < 80fl and/or MCH< 27pg were regarded as positive.Gap-PCR and PCR-RDB were used to detect the α or β-thalassemia gene of the positive cases.Results The positive rate of screening was 5.75%(23/400),and gene diagnosis 4.00%(16/400).Among the 16 thalassemia diagnosed by gene diagnosis,α-thalassemia were 11 cases,β-thalassemia 4 cases and α β-complex thalassemia 1 case.The genotype of--SEA/α α were 10 cases,and-α3.7/α α 1 case among college students with α-thalassemia. The genotype of β-thalassemia was IVS-Ⅱ-654(C→T).Conclusion The thalassemia gene carrier rate of college students in Fujian Health College is a little bit high.The genotype of--SEA/α α is the most common of α-Thalassemia,and IVS-Ⅱ-654(C →T)of β-thalassemia.

关 键 词：Α-地中海贫血 Β-地中海贫血 基因携带率 基因突变类型 

分 类 号：R4[医药卫生—临床医学]