13例重型β地中海贫血的临床观察和基因分析

CLINICAL OBSERVATION AND GENE ANALYSIS OF β-THALASSEMIA MUTATIONS (A REPORT OF 13 CASES)

１３例来自不同家庭的重型β地中海贫血患儿，应用ＰＣＲ技术扩增了其β珠蛋白基因，以中国人最常见的八种β地中海贫血突变探针进行杂交，得到ＣＤ４１一４２（一ＴＴＣＴ）、ＣＤ１７（Ａ→Ｔ）、－２８（Ａ→Ｇ）、ＩＶＳ－Ⅱ—６５４（Ｃ→Ｔ）、ＩＶＳ—Ｉ—１（Ｇ→Ｔ）五种突变，八种组合类型。ＣＤ４１—４２、ＣＤ１７纯合子或双重杂合子临床表现明显，贫血程度重，当与－２８复合形成双重杂合子时则减轻。

Abstract: Using the methods of polymerace chain reaction combined with alleied specific oligonucleotide probe, 13 cases of β-thalassemia mutations and their frequencies in Guangxi Liuzhou were analysed. We found 5 types of mutation and 8 compound genotypes of β-thalassemia.The rate of codons 41--42 (--TTCT) was 43. 3%, codon 17 (A→T) 26. 9%, -28(A→G) 15.4 %, IVS-II--654(C→T) 3.85 %, IVS-I-1 (G→T) 11. 5 %. The result of frequencies and clinical features analysis is usefl in β--thalassemia genefic determiation and pre--delivery examinatin in this region.