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

作者：Webster MT^*; Wells RS; Clegg JB

来源：Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis, 2002, 501(1-2): 99-103.

DOI：10.1016/S0027-5107(02)00017-9

• beta-globin cluster
• polymorphism
• human populations
• allele-specific PCR
• DHPLC
• human evolution

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 p-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 454 bp fragment 3.5 kb 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.

• 出版日期2002-4-25