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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。
Polymerase chain reaction (PCR) and specific oligonucleotide probe dot blot hybridization were used to detect 190 chromosomal DNA in 95 cases of β-thalassemia children in Guangxi. The results showed that there are 10 combinations of β-thalassemia gene mutation types and 28 β-globin gene mutations. Two of these patients were Codons 14-15 (+ G) / -29 (A → G) double heterozygote and codon 41-42 (-TTCT) / IVS-IL-5 ) Double heterozygotes, are the first reported a new type of β-thalassemia heterozygotes. The results of this study of β-thalassemia in the area of prenatal diagnosis of practical value.