title: A New Intergenic α-Globin Deletion (α-αΔ125) Found in a Kabyle Population.
abstract: We have identified a deletion of 125 bp (α-α(Δ125)) (NG_000006.1: g.37040_37164del) in the α-globin gene cluster in a Kabyle population. A combination of singlex and multiplex polymerase chain reaction (PCR)-based assays have been used to identify the molecular defect. Sequencing of the abnormal PCR amplification product revealed a novel α1-globin promoter deletion. The endpoints of the deletion were characterized by sequencing the deletion junctions of the mutated allele. The observed deletion was located 378 bp upstream of the α1-globin gene transcription initiation site and leaves the α2 gene intact. In some patients, the α-α(Δ125) deletion was shown to segregate with Hb S (HBB: c.20A>T) and/or Hb C (HBB: c.19G>A) or a β-thalassemic allele. The α-α(Δ125) deletion has no discernible effect on red cell indices when inherited with no other abnormal globin genes. The family study demonstrated that the deletion is heritable. This is the only example of an intergenic α2-α1 non coding DNA deletion, leaving the α2-globin gene and the α1 coding part intact.
authors.affiliation: a Unité Propre de Recherche & d'Enseignement Supérieur (UPRES) EA 4666, Génétique, Universite de Picardie Jules Verne-Centre Hospitalier Universitaire (UPJV-CHU) , Amiens , France.
authors.forename: Amrathlal Rabbind
authors.initials: AR
authors.lastname: Singh
authors.affiliation: b Laboratoire de Biochimie et Biologie Moléculaire , Hôpital Edouard Herriot , Lyon , France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Lacan
authors.affiliation: a Unité Propre de Recherche & d'Enseignement Supérieur (UPRES) EA 4666, Génétique, Universite de Picardie Jules Verne-Centre Hospitalier Universitaire (UPJV-CHU) , Amiens , France.
authors.forename: Estelle
authors.initials: E
authors.lastname: Cadet
authors.affiliation: a Unité Propre de Recherche & d'Enseignement Supérieur (UPRES) EA 4666, Génétique, Universite de Picardie Jules Verne-Centre Hospitalier Universitaire (UPJV-CHU) , Amiens , France.
authors.forename: Patricia
authors.initials: P
authors.lastname: Bignet
authors.affiliation: c Service d'Immuno-Hemato-Oncologie Pediatrique, Hôpital Charles Nicolle , Rouen , France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Dumesnil
authors.affiliation: c Service d'Immuno-Hemato-Oncologie Pediatrique, Hôpital Charles Nicolle , Rouen , France.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Vannier
authors.affiliation: b Laboratoire de Biochimie et Biologie Moléculaire , Hôpital Edouard Herriot , Lyon , France.|d Centre de Recherche et d'Innovation sur la Sport (CRIS), EA 647, Universite de Claude , Villeurbanne , France.|e Laboratoire d'Excellence sur le Globule Rouge (Labex GR-EX) , Institut Universitaire de France , Paris , France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.affiliation: a Unité Propre de Recherche & d'Enseignement Supérieur (UPRES) EA 4666, Génétique, Universite de Picardie Jules Verne-Centre Hospitalier Universitaire (UPJV-CHU) , Amiens , France.
authors.forename: Jacques
authors.initials: J
authors.lastname: Rochette
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000462:Algeria; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D055542:alpha-Globins
keywords: deletion; hemoglobin (Hb); α1-Globin gene