Abstract: Objective To investigate gene carrier rates,mutation types and distribution characteristics of β-thalassemia among the fetus of couples who carried with the β-thalassemia gene in Huizhou city. Methods For 116 couples carried with the β-thalassemia gene,fetal villus tissues were collected at the first trimester,cord blood or amniotic fluid were collected at the second trimester,and cord blood were collected at the third trimester.Insitu cultivation was performed for cells in amniotic fluid and villus tissues.Hematology and hemoglobin analysis were performed for cord blood.β-thalassemia gene was detected for tissues before and after cultivation or for cord blood. Results Among 116 fetuses,27 cases were definitely diagnosed with severe β-thalassemia which accounted for 23.28% and 56 cases were carriers which accounted for 48.28%.11 types of β-thalassemia mutation and 21 kinds of genotypes were detected and the top four were as followed:CD41-42 (26.51%),IVS-Ⅱ-654 12 ( 14.46%),CD-28 (10.84%),CD17(6.02%).56 cases were single heterozygous mutation which included 9 kinds of genotypes.24 cases were double mutant heterozygotes which included 10 kinds of genotypes.3 cases were single mutant homozygotes which included 2 kinds of genotypes.Rare mutation were detected which were 1 case of CD14-15 and 1 case of CD41-42/43 respectively. Conclusion This study shows the incidence and mutation rates of β-thalassemia among the fetus of couples carried with the β-thalassemia gene,which provides a scientific basis for prevention of thalassemia in Huizhou city.

Key words: β-thalassemia, thalassemia gene detection, couples carried with the β-thalassemia gene

摘要： 目的 研究惠州市同型β地贫夫妇的胎儿地贫携带率、基因突变类型和分布特点。方法 116 对夫妇均为轻型β-地中海贫血基因突变者,在孕早期取胎儿绒毛组织,孕中期取脐血或羊水,孕晚期取脐血;对羊水细胞和绒毛组织进行原位培养,脐血进行血液学和血红蛋白分析,分别采用培养前后的组织或脐血进行β地中海贫血基因检测。结果 116 例胎儿中检出重型β-地中海贫血胎儿27例(23.28%);检出地贫携带者56例(48.28%)。 共检出11种突变基因,21种基因型, 居前4位的依次是:CD41-42(26.51%)(22/27+56)、IVS-Ⅱ-654 (14.46%)(12/27+56) 、CD-28(10.84%)(9/27+56),CD17(6.02%)(5/27+56);其中,单突变杂合子9种,56例(67.47%)(56/27+56) ,双突变杂合子10种,24例(28.92%)(24/27+56),突变纯合子2种,3例(3.61%)(3/27+56),另外,检出少见位点突变CD14-15和CD41-42/43各1例。结论 本研究描述了惠州市同型β地贫夫妇的胎儿地贫的发生率和基因突变谱,为制订本地区地贫的防治工作提供科学依据。

关键词: :β地中海贫血, 地贫基因检测, 同型β地贫夫妇
中图分类号:R722 文献标识码:A 文章编号:1008-6579(2015)08-0804-03 doi:10.11852/zgetbjzz2015-23-08-07