PMID: 11934441Apr 6, 2002Paper

Analysis of variation in the human beta-globin gene cluster using a novel DHPLC technique

Mutation Research
Matthew T WebsterJohn B Clegg

Abstract

We have implemented a technique combining allele-specific PCR (AS-PCR) and denaturing high-performance liquid chromatography (DHPLC) to identify new polymorphic variants within an intergenic region in the beta-globin cluster. This technique is applicable to the detection of new variants in genomic regions where variation is apportioned into distinct classes of haplotype. Duplexes for DHPLC analysis were created by denaturation and re-annealing of a mixture of two AS-PCR products of known and unknown sequence from the same haplotypic class, permitting detection of new haplotypes in each class. A 454bp fragment 3.5kb 5' to the human delta-globin gene, which may have a gene regulatory function, was analysed in 840 chromosomes from a global sampling of human populations using this method. Two divergent haplotypes were found to predominate in all populations studied, possibly as a result of balancing selection.

References

Aug 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·N MaedaO Smithies
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Mar 17, 1999·Proceedings of the National Academy of Sciences of the United States of America·E E Harris, J Hey
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Citations

Nov 30, 2002·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Peter J Oefner, Christian G Huber
May 1, 2010·Expert Opinion on Medical Diagnostics·John Old, Shirley Henderson
Mar 8, 2006·European Journal of Haematology·Adamantia PapachatzopoulouAglaia Athanassiadou
May 9, 2003·Human Genetics·Matthew T WebsterRosalind M Harding

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