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Molecular characterization of hereditary persistence of foetal haemoglobin mutation by restriction fragment length
S K Das1, M De, D K Bhattacharya
1Thalassaemia Research Unit, Vivekananda Institute of Medical Sciences, Ramakrishna Mission Seva Pratishthan, Calcutta, West Bengal, India.
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.
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