成都地区β地中海贫血基因突变型及产前基因诊断初步分析

Analysis of β-Thalassemia Mutations and Prenated Diagnosis in Chengdu Population

我们通过ＤＮＡ扩增和等位特异寡核苷酸探针杂交，检测了成都地区可疑β地中海贫血（简称地贫）患者３３个家系，９５人。共检出５８例、７３条染色体的β珠蛋白基因突变。其中，Ｃｏｄｏｎ１７（Ａ→Ｔ）突变２８例（３８．４％）ｌｃＯｄｏｎ４１－４２（－ＴＴＣＴ）突变２１例（２８．８％）；ＩＶＳ－Ⅱ－６５４（Ｃ→Ｔ）突变１４例（１９．０％）；ｎｔ－２８（Ａ→Ｇ）和ｎｔ－２９（Ａ→Ｇ）突变分别是６例（８．２％）和４例（５．５％）。在测知双亲β地贫突变类型的基础上，对两例β地贫风险胎儿采羊水细胞分离ＤＮＡ，用相同方法进行了产前基因诊断，获满意结果。

inety-five of non-differential diagnostic patients were detected by dot-blot analysis on enzy-matically amplified DNA with a number of allele speci-fic oligonucleotide prohas complementary to the mostcommon mutations in Chengdu population, Prenataldiagnosis was accomplished by the same procedure onenzymatically amplified arnniocyte DNA.The resultrevealed fifty-eight cases of β-thalassemia. Of the 73chromosomes tested, twenty-eight(38.4%)had thecodon 17(A→T) mutation, twenty-one(28.8%)hadthe codon 41-42(-TTCT) mutation, fourteen(19.0%)had the IVS-Ⅱ-654(C→T) mutationi nt-28(A→G)and nt-29(A→G) mutations were six(8.2%)andfour(5.5%)respectively.