Case Reports
Molecular characterization of hereditary persistence of foetal haemoglobin mutation by restriction fragment length polymorphism mapping
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- PMID: 11545449
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Case Reports
Molecular characterization of hereditary persistence of foetal haemoglobin mutation by restriction fragment length polymorphism mapping
Cytobios.
2001.
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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