574例珠蛋白生成障碍性贫血阳性患者基因突变类型的回顾性分析  

Retrospective analysis of gene mutation types in 574 positive patients with thalassemia

作　　者：张满娥[1] 黄文滨 卢志华 张洪彬[1] ZHANG Man′e;HUANG Wenbin;LU Zhihua;ZHANG Hongbin(Molecular Biology Laboratory,Longyan Municipal Second Hospital,Longyan,Fujian 364000,China)

机构地区：[1]福建省龙岩市第二医院分子生物实验室,364000

出　　处：《检验医学与临床》2018年第19期2892-2894,2898,共4页Laboratory Medicine and Clinic

摘　　要：目的了解福建龙岩地区珠蛋白生成障碍性贫血(简称地贫)基因型及构成比。方法收集2014年7月至2016年12月来该院进行地贫基因检测的患者1115例,采用跨越断裂点聚合酶链反应(Gap-PCR)法检测—^(SEA)、-α^(3.7)和-α^(4.2)3种常见的缺失型α地贫基因,聚合酶链反应结合反向点杂交(PCR-RDB)法检测WS、QS和CS 3种非缺失型α地贫基因及17种常见的β地贫基因。结果 1115例患者中有574例确诊为地贫,阳性率为51.48%。其中α地贫362例,占63.07%,12种基因型;β地贫201例,占35.02%,11种基因型;αβ复合型地贫11例,占1.91%,7种基因型。α地贫以—^(SEA)/αα为主(73.76%);β地贫以β^(654)/β为主(47.26%);αβ复合型地贫以—α^(3.7)/αα与β^(654)/β复合型最为常见(27.28%)。结论了解福建龙岩地区地贫基因型及分布可以为该地区地贫的遗传咨询和制订地贫预防措施提供科学依据。Objective To understand the genotypes and constituent ratio of thalassemia in Longyan area of Fujian Province. Methods A total of 1 115 subjects undergoing thalassemia gene detection were collected in this hospital from July 2014 to December 2016.The three common deletion type alpha-thalassemia genes of -- SEA ,-α 3.7 and -α 4.2 were detected by adopting Gap-PCR,and the three common non-deletion type alpha-thalassemia genes of WS,QS and CS,and the 17 common β-thalassemia genes were detected by using PCR combined with reverse dot blot （PCR-RDB）. Results Among 1 115 cases,574 cases were diagnosed as thalassemia with the positive rate of 51.48%.Among them,362 cases were alpha-thalassemia,accounting for 63.07%,including 12 genotypes;201 cases were β-thalassemia,accounting for 35.02%,including 11 genotypes;11 cases were alpha-thalassemia composite β-thalassemia,accounting for 1.91%,including genotypes.-- SEA /αα （ 73.76 %） was the main genotype of alpha-thalassemia;β 654 /β （47.26%） was the main genotype of β-thalassemia;-α 3.7 /αα and β 654 /β composite type （27.28%） was the most common type of alpha-thalassemia composite β-thalassemia. Conclusion Understanding the genotype and distribution of thalassemia in Longyan area of Fujian Province can provide a scientific basis for the genetic counseling of thalassemia and formulating the prevention measures of thalassemia.

关 键 词：珠蛋白生成障碍性贫血 基因分型 福建 

分 类 号：R556.6[医药卫生—血液循环系统疾病]