合并α珠蛋白基因缺失的β地中海贫血患儿基因型分析  

The analysis of gene type in offspring of beta-thalassaemia carriers accompanied with alpha globin gene deletion.

作　　者：李德发[1] 祖莹[2] 孙平[2] 李长钢[3] 陈运生[1] 

机构地区：[1]深圳市儿童医院检验科,广东518026 [2]深圳市儿童医院儿科研究所,广东518026 [3]深圳市儿童医院血液科,广东518026

出　　处：《中国优生与遗传杂志》2005年第3期23-24,42,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　检测深圳地区合并α珠蛋白基因缺失的 β地中海贫血患儿基因突变类型。方法　血液常规检查红细胞Hb、MCV、MCH、RDW ,“一管法”测红细胞渗透脆性 ,琼脂糖凝胶电泳分析各种血红蛋白含量 ,PCR结合反向点杂交分析地中海贫血基因类型。结果　确诊为 β地中海贫血患儿 2 70例 ,其中 1 9例合并有α 0地中海贫血 ,约占 7 0 4 %。这 1 9例杂合子有 2 1条染色体上 β珠蛋白基因发生突变 ,突变类型共有 6种 ,分别是CD4 1 - 4 2占 38 1 0 % ,IVS2nt6 5 4占2 8 5 7% ,CD1 4 - 1 5占 1 4 2 9% ,β - 2 8占 9 5 2 % ,βE占 4 76 %和CD71 - 72占 4 76 %。结论　深圳地区合并α珠蛋白基因缺失的 β地中海贫血患儿基因突变类型呈现多样性。Objective:To analysis the gene mutation type and frequency in offspring of beta-thalassemia carriers accompanied with alpha globin gene deletion in Shenzhen area. Methods:The Hb、MCV、MCH、RDW were measured by Abbott Cell DYN 1700, the red cell osmotic fragility was quantified by simple tube, the alkaline Hb was analyzed using agrose gel electrophoresis, the globin gene mutation type was detected by PCR and reverse dot blot hybridization(RDB). Results:There were 270 cases beta-thalassemia carriers, among which 18 were accompanied with alpha zero thalassemia. In the 19 heterozygotes, 6 types mutation were found on 21 beta globin genes. the mutation types were as follows: 8 of CD41-42(38.10%), 6 of IVS2nt654(28.57%),3 of CD14-15(14.29%),2 of β-28(9.52%),1 of βE(4.76%), 1 of CD71-72(4.76%). Conclusion:The type of gene mutation in beta-thalassemia carriers accompanied with alpha globin gene deletion were multifarious in Shenzhen area.

关 键 词：α/β地中海贫血 突变 基因诊断 

分 类 号：R725.5[医药卫生—儿科]