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© 1995 Oxford University Press

OTHER

Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome

Jan Dubovsky, Val C. Sheffield1, Geoffrey M. Duyk2 and James L. Weber*

Center for Medical Genetics, Marshfield Medical Research Foundation 1000 North Oak Avenue, Marshfield, WI 54449, USA 1Department of Pediatrics, University of lowa lowa City, IA 52242, USA 2Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School 200 Longwood Avenue Boston, MA 02115 USA

*To whom correspondence should be addressed

Received November 3, 1994; Revised December 16, 1994; Accepted December 16, 1994

For the purpose of initial screening of the human genome in linkage mapping, two overlapping sets of high quality short tandem repeat polymorphisms (STRPs) which span the autosomes have been assembled. The higher density set contains a total of 363 markers with an average heterozygosity of 79% and an average sex-equal genetic distance between markers of 10.5 cM. The lower density set, which is a subset of the other, contains 156 markers with an average heterozygosity of 80% and an average spacing of 26.5 cM. Tri- and tetranucleotide STRPs comprised 47 and 63%, respectively, of the markers within the higher and lower density sets. Markers within the screening sets were selected to have maximum quality, where quality was defined as a blend of high informativeness, strong amplification under standard PCR conditions, low amplification background, and ease in scoring. The screening sets along with combinations of STRPs which can be amplified and electrophoresed simultaneously are available electronically through anonymous ftp.


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