Summary
The distribution of restriction fragment length polymorphism (RFLP) at theBamH1 site of the β-globin gene was investigated in the Chinese, Indian, and Malay race in Singapore. The sample comprised of 183 normal individuals and 35 β-thalassemia carriers in which 13 were couples with at least one β-major child. The results from this study indicate thatBamH1 polymorphism will be informative in 22% of pregnancies at risk for β-thalassemia major in Chinese, 19% in Malays and 7% in Indians. In prenatal diagnosis usingBamH1 polymorphism for one β-major affected family, the fetus was diagnosed to be normal or β-carrier. The validity ofBamH1 polymorphism in the exclusion of β-thalassemia major was subsequently confirmed at birth by globin chain biosynthesis.
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Tan, J.A.M.A., Tay, S.H.J., Kham, K.Y.S. et al. BamH1 polymorphism in the Chinese, Malays, and Indians in Singapore and its application in the prenatal diagnosis of β-thalassemia. Jap J Human Genet 38, 315–318 (1993). https://doi.org/10.1007/BF01874141
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DOI: https://doi.org/10.1007/BF01874141