[Identification of 5 variants of the hemoglobin beta chain using DNA analysis (amplification, sequencing and restriction enzymes)].
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.
Martí
E
E
Departamento de Hematología y Hemoterapia, Hospital Universitario San Carlos, Madrid.
Ropero
P
P
Ataulfo González
F
F
Sánchez
J
J
Andrés
P
P
Urquizu
C
C
Arrizabalaga
B
B
del Arco
A
A
Martínez
M
M
Pascual
T
T
Ricard
P
P
Villegas
A
A
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
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