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Cellular and Molecular Biology Letters

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Volume 19, Issue 2

Issues

Fannin-Lubbock-I [α2β2119(GLY>ASP)], a rare mutation in the beta-globin gene, has been detected for the first time in a Hindu Brahmin family in West Bengal, India

Jayasri Basak / Deboshree Bhattacharyya / Ashis Mukhopadhyay
Published Online: 2014-06-22 | DOI: https://doi.org/10.2478/s11658-014-0192-6

Abstract

This study aims to describe the hemoglobin Fannin-Lubbock-I, which has a rare mutation substituting the amino acid glycine with aspartic acid at codon 119 of the β-globin chain. A Bengalee Hindu Brahmin family from Kolkata in West Bengal was the focus of this study. Molecular analysis using ARMS-PCR and direct DNA sequencing revealed the presence of a GGC > GAC mutation in codon 119 of the β-globin gene in a heterozygote state in three women of the same family. This is the first report of the hemoglobin Fannin-Lubbock-I from India. Our results will help to identify this mutation, which is relatively infrequent in our population.

Keywords: Hb Fannin-Lubbock-I; Bengalee; Brahmin family; β-globin gene; Rare mutation; Thalassemia; West Bengal; India; ARMS-PCR; Sequencing

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About the article

Published Online: 2014-06-22

Published in Print: 2014-06-01


Citation Information: Cellular and Molecular Biology Letters, Volume 19, Issue 2, Pages 277–283, ISSN (Online) 1689-1392, DOI: https://doi.org/10.2478/s11658-014-0192-6.

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