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科学通报(英文版) 2004
Construction of fine SNP haplotypes and haplotype blocks in 5 genes in the centromere of chromosome 15 in Chinese Han subjectsKeywords: haplotype,haplotype-block,SNP,genome,centromeric genes in chromosome 15 Abstract: Recent advances have shown that the majority of the nucleotide variation in human genome is single nucleo- tide 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-asso- ciated genes/variants. However,most data available today are based on the large-scale genomic analyses, data concern- ing 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 hetero- geneity 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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