title: Molecular characterization of hereditary persistence of foetal haemoglobin mutation by restriction fragment length polymorphism mapping.
abstract: Characterization of hereditary persistence of foetal haemoglobin (HPFH) mutation in a family from West Bengal, India, was carried out by analysing the structure of the 5'-Ggamma-Agamma-psibeta-delta-beta-3' globin gene region by using the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) technique. The HPFH in this family was due to a deletion in the beta-globin gene cluster spanning at least from the Hin cII/5' psibeta to the Hin fI/3' beta RFLP site. This work indicates the importance of RFLP-PCR technique in characterization of the HPFH mutation.
authors.affiliation: Thalassaemia Research Unit, Vivekananda Institute of Medical Sciences, Ramakrishna Mission Seva Pratishthan, Calcutta, West Bengal, India.
authors.forename: S K
authors.initials: SK
authors.lastname: Das
authors.forename: M
authors.initials: M
authors.lastname: De
authors.forename: D K
authors.initials: DK
authors.lastname: Bhattacharya
authors.forename: G
authors.initials: G
authors.lastname: Talukder
mesh_terms: D000293:Adolescent; D000368:Aged; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D005319:Fetal Hemoglobin