肇庆地区人群中β-地中海贫血的基因型分析

Study on genetic types of β-thalassemia patients in Zhaoqing area

目的了解广东省肇庆地区人群中β-地中海贫血的基因类型及分布频率。方法应用聚合酶链反应技术(PCR)结合反向点杂交(RDB)技术检测β-地中海贫血基因。结果 239例β-地中海贫血患者的基因突变类型包括209例杂合子占87.44%,21例双重杂合子占8.79%,9例纯合子占3.77%。其中最常见的基因突变类型为CD 41-42,-TTCT;占50.96%。其余常见的β-地中海贫血基因突变位点有,-28,A-G;IVS-2nt 654,C→T;CD17,A-T和CD 71-72,+A;βECD26(G-A);CD27-28,+C;分别占14.56%、11.15%、6.51%、6.13%、4.21%和4.21%。结论肇庆地区β-地中海贫血基因最常见的突变类型为CD41-42,-TTCT;双重杂合子及纯合子β-地中海贫血较多见。做好婚前、产前检查和遗传咨询,对预防β-地中海贫血患儿出生极有必要。

Abstract：Objective To understand the genetic types and distribution of β- thalassemia patients in Zhaoqing area in Guangdong Province. Methods β-thalassemia gene was detected with polymerase chain reaction （PCR） combined reverse dot blot （RDB） technique. Results The 239 beta-thalassemia mutation patients included 209 heterozygous patients accounted for 87.44% ,21 double heterozygote patients accounted for 8.79% ,9 homozygous patients accounted for 3.77%. One of the most common type of gene mutation was CD 41-42,accounted for 50.96%. The other common beta-thalassemia mutation sites were -28,A-G;IVS-2nt 654,C,T;CD17,A-T and CD＋A;71-72, 13ECD26 （G-A）; CD27-28,＋C;14.56% ,11.15% ,6.51% ,6.13% ,4.21% and 4.21% respectively. Conclusions The most common mutations in the region of β - thalassemia gene was CD41-42, double heterozygous and homozygous 13- thalassemia anemia were more common. Premarital screening and genetic counseling are necessary for preventing the birth of β- thalassemia babies.