摘要
用聚合酶链反应（ＰＣＲ）技术及特异性寡核苷酸探针斑点杂交方法，检测广西地区９５例临床诊断为β地中海贫血患儿的１９０条染色体ＤＮＡ。结果表明，有１０种β地中海贫血珠蛋白基因突变类型和２８种β珠蛋白突变基因的组合形式。其中有２例患儿分别为密码子（Ｃｏｄｏｎｓ）１４－１５（＋Ｇ）／－２９（Ａ→Ｇ）双重杂合子和密码子４１－４２（－ＴＴＣＴ）／ＩＶＳ－ＩＬ－５（Ｇ→Ｃ）双重杂合子，均属首次报道的β地中海贫血双重杂合子新类型。这一研究结果对该地区β地中海贫血的产前诊断有实用价值。
?Thalassemia DNA was detected in 95 children bypolymerase chain reaction (PCR) and dot-blot hy-bridizauon with 12 specific oligonucleotide probes simul-taneously. We found 10 types of rnutation and 28 com-pound genotypes of β-thalassemia. The rate of codons41～42 (-TTCT) was 40.% , codon 17(A→T)21.6%, -28 (A→-G) 16. 3% , IVS-11-6O4 (C→T)7. 4%, IVS-I 1 (G→T) 4. 2%, -29 ( A→G )3. 2 %,codons 71 ～72. (-A) 2.6%, codon 43 (G→T)1.6% , codons 14～15(-G) 0. 5% , IVS-II-5(G→C)0.5%, and undefined 2. 1%. A rare mutation codons1 4 ～15 (+ G ) cornbined with -29 ( A→G ) and a newmutation IVS-II-5(G→C) combined with codons 41～42 (- TTCT) were found in two unrelated children wiihthalasseinia. The results of the study dernonstrated thatthe techniques described in this article were all suitablefor the molecular diagnosis of β-thalassemias as well asfor the studies on β-globin gene expression.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
1995年第1期41-43,共3页
Chinese Journal of Pediatrics
基金
广西壮族自治区科委基金
关键词
地中海贫血
聚合酶链反应
基因突变
核酸杂交
Thalassemia Polyrnerase chain re-action Gene mutation Nucleic acidhybridization
