[Analysis of beta-thalassemia mutations and prenated diagnosis in Chengdu population]

Ninety-five of non-differential diagnostic patients were detected by dot-blot analysis on enzymatically amplified DNA with a number of allele specific oligonucleotide probes complementary to the most common mutations in Chengdu population. Prenatal diagnosis was accomplished by the same procedure on enzymatically amplified amniocyte DNA. The result revealed fifty-eight cases of beta-thalassemia. Of the 73 chromosomes tested, twenty-eight (38.4%) had the codon 17(A-->T) mutation, twenty-one (28.8%) had the codon 41-42(-TTCT) mutation, fourteen (19.0%) had the IVS-I-654(C-->T) mutation; nt--28(A-->G) and nt--29(A-->G) mutations were six (8.2%) and four (5.5%) respectively.