title: 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.
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.
authors.affiliation: Department of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute (NCRI), 16A Park Lane, Kolkata, 700016, India, hmcwt@dataone.in.
authors.forename: Jayasri
authors.initials: J
authors.lastname: Basak
authors.forename: Deboshree M
authors.initials: DM
authors.lastname: Bhattacharyya
authors.forename: Ashis
authors.initials: A
authors.lastname: Mukhopadhyay
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001224:Aspartic Acid / Q000378:metabolism; D001483:Base Sequence; D003062:Codon; D005260:Female; D005998:Glycine / Q000378:metabolism; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007194:India; D007223:Infant; D008875:Middle Aged; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013789:Thalassemia / Q000235:genetics / Q000473:pathology
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D001224:Aspartic Acid; C032030:hemoglobin Fannin-Lubbock; D005998:Glycine