Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21

Nila Patil; Anthony Berno; David A. Hinds; Wade A. Barrett; Jigna M. Doshi; Coleen R. Hacker; Curtis Kautzer; Danny H. Lee; Claire Marjoribanks; David P. McDonough; Bich T. N. Nguyen; Michael C. Norris; John B. Sheehan; Naiping Shen; David L. Stern; Renee Stokowski; Daryl J. Thomas; Mark O. Trulson; Kanan R. Vyas; Kelly A. Frazer; Stephen P. A. Fodor; David R. Cox

doi:10.1126/science.1065573

Abstract

Global patterns of human DNA sequence variation (haplotypes) defined by common single nucleotide polymorphisms (SNPs) have important implications for identifying disease associations and human traits. We have used high-density oligonucleotide arrays, in combination with somatic cell genetics, to identify a large fraction of all common human chromosome 21 SNPs and to directly observe the haplotype structure defined by these SNPs. This structure reveals blocks of limited haplotype diversity in which more than 80% of a global human sample can typically be characterized by only three common haplotypes.

Keywords

HaplotypeSingle-nucleotide polymorphismGeneticsBiologyHuman genomeNucleotide diversityHaplotype estimationChromosomeGeneEvolutionary biologyGenomeAlleleGenotype

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Publication Info

Year: 2001
Type: article
Volume: 294
Issue: 5547
Pages: 1719-1723
Citations: 1147
Access: Closed

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APA Style

                            
                                
                                    Nila Patil, 
                                
                                    Anthony Berno, 
                                
                                    David A. Hinds
                                
                                et al.
                            
                            (2001). 
                            Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21. 
                            Science
                            , 294
                            (5547)
                            , 1719-1723.
                            https://doi.org/10.1126/science.1065573
                        

Identifiers

DOI: 10.1126/science.1065573