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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

Cellular & Molecular Biology Letters volume 19, pages 277–283 (2014)Cite this article

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.

Abbreviations

ARMS:

amplification refractory mutation system

CBC:

complete blood count

Hb:

hemoglobin

HGMD:

Human Genome Mutation Database

HPLC:

high performance liquid chromatography

MCH:

mean corpuscular hemoglobin

MCHC:

mean corpuscular hemoglobin concentration

MCV:

mean corpuscular volume

NCBI:

National Centre for Biotechnology Information

PCR:

polymerase chain reaction

RBC:

red blood cell

RDW:

red cell distribution width

RFLP:

restriction fragment length polymorphism

WBC:

white blood cell

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Author information

Authors and Affiliations

  1. Department of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute (NCRI), 16A Park Lane, Kolkata, 700016, India

    Jayasri Basak & Deboshree M. Bhattacharyya

  2. Department of Medical Oncology, NCRI, Kolkata, India

    Ashis Mukhopadhyay

Authors
  1. Jayasri Basak
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  2. Deboshree M. Bhattacharyya
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  3. Ashis Mukhopadhyay
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Correspondence to Jayasri Basak.

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Basak, J., Bhattacharyya, D.M. & Mukhopadhyay, A. 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. Cell Mol Biol Lett 19, 277–283 (2014). https://doi.org/10.2478/s11658-014-0192-6

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  • DOI: https://doi.org/10.2478/s11658-014-0192-6

Keywords

Cellular & Molecular Biology Letters

ISSN: 1689-1392

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