A NOVEL β0-THALASSEMIA MUTATION AT CODON 55 (−A) AND A RARE 17 bp DELETION AT CODONS 126–131 IN THE INDIAN POPULATION
- 1 January 2002
- journal article
- Published by Taylor & Francis in Hemoglobin
- Vol. 26 (1) , 41-47
- https://doi.org/10.1081/hem-120002939
Abstract
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.Keywords
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