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

• Autorzy: Basak J. , Bhattacharyya D. M. , Mukhopadhyay A.
• Języki publikacji: EN

Abstrakty

EN

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.

Słowa kluczowe

EN

hemoglobin; Fannin-Lubbock-I; mutation; rare mutation; beta-globin gene; detection; Brahmin family; West Bengal; India

• Wydawca: -
• Czasopismo: Cellular and Molecular Biology Letters
• Rocznik: 2014
• Tom: 19
• Numer: 2
• Opis fizyczny: p.277-283.fig.,ref.

Twórcy

autor

Basak J.

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

autor

Bhattacharyya D. M.

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

autor

Mukhopadhyay A.

• Department of Medical Oncology, NCRI, Kolkata, India

Bibliografia

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