应用聚合酶链反应技术检测广西儿童β地中海贫血基因突变类型  

APPLICATlON OF POLYMERASE CHAINREACTION IN DIAGNOSIS OF β-THALA-SSEMIA MUTATION GENES IN GUANGXlCHILDREN

作　　者：苏承武[1] 梁荣[1] 梁徐[1] 金琪[1] 蒋南华[1] 唐智宁[1] 林希平[2] 卢桂森 黄荣宁 黄俊琳 熊宏文 THJ Huisman 

机构地区：[1]广西医科大学附属第一医院儿科 [2]广西柳州市人民医院 [3]广西玉林地区红十字会医院 [4]广西玉林地区人民医院 [5]广西梧州地区人民医院 [6]广西自治区妇幼保健院 [7]美国佐治亚州医学院

出　　处：《中华儿科杂志》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

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.

关 键 词：地中海贫血 聚合酶链反应 基因突变 核酸杂交 

分 类 号：R725.566.1[医药卫生—儿科] R446.9[医药卫生—临床医学]