Publication Date:
2001-11-27
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Patil, N -- Berno, A J -- Hinds, D A -- Barrett, W A -- Doshi, J M -- Hacker, C R -- Kautzer, C R -- Lee, D H -- Marjoribanks, C -- McDonough, D P -- Nguyen, B T -- Norris, M C -- Sheehan, J B -- Shen, N -- Stern, D -- Stokowski, R P -- Thomas, D J -- Trulson, M O -- Vyas, K R -- Frazer, K A -- Fodor, S P -- Cox, D R -- New York, N.Y. -- Science. 2001 Nov 23;294(5547):1719-23.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Perlegen Sciences, Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11721056" target="_blank"〉PubMed〈/a〉
Keywords:
Algorithms
;
Alleles
;
Animals
;
Chromosomes, Human, Pair 21/*genetics
;
Continental Population Groups/genetics
;
Ethnic Groups/genetics
;
Gene Frequency/genetics
;
Genetic Variation/genetics
;
Genome, Human
;
Haplotypes/*genetics
;
Humans
;
Hybrid Cells/metabolism
;
Mutation/genetics
;
Oligonucleotide Array Sequence Analysis/*methods
;
Polymorphism, Single Nucleotide/*genetics
;
Random Allocation
;
Sensitivity and Specificity
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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