摘要
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.
出处
《中国小儿血液》
1996年第5期200-201,207,共3页
China Child Blood