摘要
应用聚合酶链反应和等位基因特异寡核苷酸斑点杂交技术时１例β地中海贫血家系进行基因诊断，确定先证者基因型为ＣＤ４１－４２（－ＴＴＣＴ）／ＣＤ１７（Ａ－Ｔ）双重杂合子，先证者父母的基因型分别为ＣＤ４１－４２（－ＴＴＣＴ）／β＾Ａ和ＣＤ１７（Ａ－Ｔ）／βＡ杂合子。
Gene diagnosis of a family of β-thalassemia was carried out by polymerase chain reaction (PCR) in combination with dot-blot-ting hybridization of allele-specific oligonucleotide (ASO) probes. The proband was indentified as the double heterozygotes for CD 17(A-T)/ CD 41-42(-TTCT), His father and mother were indentified as the carriers for CD 41-42 (-TTCT)/βA and CD 17(A-T)/βA.
