Fannin-Lubbock-I [α2β2 119(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

Jayasri Basak²  Deboshree M. Bhattacharyya²  Ashis Mukhopadhyay¹ 

[1] Department of Medical Oncology, NCRI, Kolkata, India$$;Department of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute (NCRI), Kolkata, India$$

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

DOI  :  10.2478/s11658-014-0192-6

学科分类：分子生物学，细胞生物学和基因

来源: Uniwersytet Wroclawski * Wydzial Biotechnologii / University of Wroclaw, Faculty of Biotechnology

【 摘 要 】

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.

【 授权许可】

Unknown