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Fannin-Lubbock-I [alpha2beta2119(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

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Basak J., Bhattacharyya D. M., Mukhopadhyay A.

Cellular and Molecular Biology Letters

2014

tom 19

nr 2

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.

Ograniczanie wyników

1 Cellular and Molecular Biology Letters

1 Basak J.

1 Bhattacharyya D. M.

1 Mukhopadhyay A.

1 2014

Wyniki wyszukiwania

Fannin-Lubbock-I [alpha2beta2119(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