title: [Identification of 5 variants of the hemoglobin beta chain using DNA analysis (amplification, sequencing and restriction enzymes)].
abstract: OBJECTIVE
  To confirm the conventional techniques for studying structural haemoglobinopathies and to show off the simplicity and efficacy of new methods based on the study of DNA.
  
  
  METHODS
  Peripheral blood samples of 17 patients with 5 haemoglobin variants detected by conventional and shown off by means of sequencing according to Sanger's method, plus PCR-RFLP, were studied.
  
  
  RESULTS
  Five structural haemoglobin variants were found, which distributed as follows: 7 cases of Hb Complutense (beta 127 Gln-->Glu), 1 Hb D-Punjab (beta 121 Glu-->Gln), 3 Hb Hofu (beta 126 Val-->Glu), 3 Hb J-Baltimore (beta 16 Gly-->Asp) and 3 Hb San Diego (beta 109 Val-->Met).
  
  
  CONCLUSIONS
  These results allow us to stress the simplicity and usefulness of DNA analysis (sequencing , amplification and enzymatic digestion) to identify haemoglobin variants as opposed to laborious analysis of the primary structure by means of HPLC peptide separation.
authors.affiliation: Departamento de Hematología y Hemoterapia, Hospital Universitario San Carlos, Madrid.
authors.forename: E
authors.initials: E
authors.lastname: Martí
authors.forename: P
authors.initials: P
authors.lastname: Ropero
authors.forename: F
authors.initials: F
authors.lastname: Ataulfo González
authors.forename: J
authors.initials: J
authors.lastname: Sánchez
authors.forename: P
authors.initials: P
authors.lastname: Andrés
authors.forename: C
authors.initials: C
authors.lastname: Urquizu
authors.forename: B
authors.initials: B
authors.lastname: Arrizabalaga
authors.forename: A
authors.initials: A
authors.lastname: del Arco
authors.forename: M
authors.initials: M
authors.lastname: Martínez
authors.forename: T
authors.initials: T
authors.lastname: Pascual
authors.forename: P
authors.initials: P
authors.lastname: Ricard
authors.forename: A
authors.initials: A
authors.lastname: Villegas
mesh_terms: D004252:DNA Mutational Analysis; D005069:Evaluation Studies as Topic; D005914:Globins / Q000235:genetics*; D006448:Hemoglobin J / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D006455:Hemoglobins, Abnormal; C048991:hemoglobin Complutense; C028906:hemoglobin San Diego; D006448:Hemoglobin J; D005914:Globins; C026237:hemoglobin D Punjab; C028908:hemoglobin Hofu; C030639:hemoglobin J Baltimore