Article
An IVS-I-117 (G-->A) acceptor splice site mutation in the alpha 1-globin gene is a nondeletional alpha-thalassaemia-2 determinant in an Indian population.
British journal of haematology - 1 Sept 1993
Cürük M A, Baysal E, Gupta R B, Sharma S, Huisman T H
Abstract excerpt
In 1991 we reported the identification of two deletional alpha-thalassaemia-2 determinants (-3.7 kb and -4.2 kb) and one nondeletional alpha-thalassaemia-2 determinant (Hb Koya Dora alpha 2 codon 142, TAA-->TCA) in a tribal population in Central India (Gupta et al, 1991). Evidence was obtained at...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- DNA
- Female
- Globins
- Hemoglobin, Sickle
- Heterozygote
- Humans
- Immunoblotting
- India
- Male
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- alpha-Thalassemia