Article

Molecular characterization of hereditary persistence of foetal haemoglobin mutation by restriction fragment length polymorphism mapping.

Thalassaemia Research Unit, Vivekananda Institute of Medical Sciences, Ramakrishna Mission Seva Pratishthan, Calcutta, West Bengal, India.
Cytobios 02/2001; 106 Suppl 2:229-32. pp.229-32
Source: PubMed

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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Keywords

5'-Ggamma-Agamma-psibeta-delta-beta-3' globin gene region
 
beta-globin gene cluster spanning
 
characterization
 
foetal haemoglobin
 
hereditary persistence
 
Hin cII/5' psibeta
 
Hin fI/3' beta RFLP site
 
restriction fragment length polymorphism-polymerase chain reaction
 
RFLP-PCR
 
RFLP-PCR technique
 

S K Das