Abstract
Recent advances have shown that the majority of the nucleotide variation in human genome is single nucleotide polymorphisms (SNPs). Using SNPs each chromosome can be divided into different haplotype blocks, and there are limited common haplotypes in each block. This provides a powerful approach for whole genome scan for disease-associated genes/variants. However, most data available today are based on the large-scale genomic analyses, data concerning individual genes for fine mapping with high density SNPs are relatively lacking. We have sequenced 7 genes and their flanking regions, identified 34 novel SNPs, constructed high density SNP haplotypes and haplotype blocks in 5 genes in the centromeric region of chromosome 15 in 100 Chinese Han subjects. Our results show that there is a great heterogeneity in the haplotypes and haplotype block structures within and between these genes, which are in close physical proximity. Data obtained in this study provide a useful tool for candidate gene approach at the fine scale for identifying disease contributing variants in the genes/regions.
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