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AV Hill, DK Bowden, DF O'Shaughnessy, DJ Weatherall and JB Clegg
Nuffield Department of Clinical Medicine, University of Oxford, England.
Data on the distribution of beta thalassemia among over 6,000 Melanesians
reveals a major difference in the carrier rates between populations in the
malarious coastal regions of New Guinea and those living in the
historically malaria-free Highlands. The island of Maewo in Vanuatu has a
particularly high incidence of beta + thalassemia associated with a single
restriction enzyme haplotype. Direct cloning into a plasmid vector and
sequence analysis demonstrate that the mutation is a G to C transversion at
position 5 of intron 1 of the beta- globin gene. Oligonucleotide probe
surveys indicate that this variant accounted for all cases of beta
thalassemia studied from Maewo. It is also common in coastal Papua New
Guinea where haplotype and oligonucleotide probe data suggest that the
molecular basis of beta thalassmia is more heterogeneous.
This article has been cited by other articles:
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| Copyright © 1988 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||