A NOVEL β0-THALASSEMIA MUTATION AT CODON 55 (−A) AND A RARE 17 bp DELETION AT CODONS 126-131 IN THE INDIAN POPULATION

A new mutation at codon 55 (−A) and a rare mutation, a 17 bp deletion at codons 126-131, that gives rise to β0-thalassemia, were found in the Indian population by means of direct sequencing of two polymerase chain reaction products generated from a 2.3 kb DNA fragment containing the whole β-globin gene. Each polymerase chain reaction product was sequenced on both strands in a mutation-loading format, showing all nucleotide substitutions or deletions insertions, including mutations and polymorphisms, in the product. The entire protocol requires four sequencing reactions gel loadings after two successive polymerase chain reactions, which simplifies the mutation search process and reduces the reading error rate.