A COLLECTION OF ORDERED TETRANUCLEOTIDE-REPEAT MARKERS FROM THE HUMANGENOME

Citation
D. Adamson et al., A COLLECTION OF ORDERED TETRANUCLEOTIDE-REPEAT MARKERS FROM THE HUMANGENOME, American journal of human genetics, 57(3), 1995, pp. 619-628
Citations number
27
Categorie Soggetti
Genetics & Heredity
ISSN journal
00029297
Volume
57
Issue
3
Year of publication
1995
Pages
619 - 628
Database
ISI
SICI code
0002-9297(1995)57:3<619:ACOOTM>2.0.ZU;2-Y
Abstract
A collection of 1,069 human PCR-based genetic markers has been develop ed, and their distribution over the 22 autosomes and the X chromosome has been determined. Each marker was developed around a short-tandem-r epeat DNA sequence. The majority (85%) of the markers described here w ere selected to contain tetranucleotide repeats, because these repeats show better stability during PCR than do dinucleotide repeats. Linkag e maps constructed from genotypes collected with these markers in four CEPH pedigrees (1331, 1332, 1362, and 884) covered 3,417 cM of the hu man genome. More than 600 of the loci revealed heterozygosities >.70. Overall, 444 loci were ordered, with odds >100:1 against inversion of adjacent loci. The average distance between markers was 7.4 cM on the autosomes and 24.8 cM on the X chromosome. Likely locations (100:1 odd s intervals) were assigned for the remaining 621 short-tandem-repeat p olymorphisms, as well as for 160 other markers that are present on the framework maps published by the Cooperative Human Linkage Center. Fou r markers specific to the Y chromosome are also reported here. From ou r maps, 347 markers were chosen to define ''index'' maps for each of t he 22 autosomes, The index markers detect loci with an average heteroz ygosity of .85 and cover 3,169 cM of the autosomes, with an average di stance between markers of 9.2 cM. These polymorphic short tandem repea ts will be highly useful as reagents for the ongoing genetic and physi cal mapping of the human genome and for characterization of genetic ch anges in cancer.