A novel beta(0)-thalassemia mutation at codon 55 (-A) and a rare 17 bp deletion at codons 126-131 in the Indian population

作者:Nadkarni A; Sakaguchi T; Takaku H; Gorakshakar A; Phanasgaonkar S; Colah RB; Mohanty D; Kiyama R*
来源:Hemoglobin, 2002, 26(1): 41-47.
DOI:10.1081/HEM-120002939

摘要

A new mutation at codon 55 (-A) and a rare mutation, a 17 bp deletion at codons 126-131, that gives rise to beta(0)-thalassemia, were found in the Indian population by means of direct sequencing of two polymerase chain reaction products generated from a 2.3 kb UNA fragment containing the whole beta-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.

  • 出版日期2002

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