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
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.