Skip to main content
Journal cover image

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.

Publication ,  Journal Article
Matise, TC; Sachidanandam, R; Clark, AG; Kruglyak, L; Wijsman, E; Kakol, J; Buyske, S; Chui, B; Cohen, P; de Toma, C; Ehm, M; Glanowski, S ...
Published in: Am J Hum Genet
August 2003

Recent advances in technologies for high-throughout single-nucleotide polymorphism (SNP)-based genotyping have improved efficiency and cost so that it is now becoming reasonable to consider the use of SNPs for genomewide linkage analysis. However, a suitable screening set of SNPs and a corresponding linkage map have yet to be described. The SNP maps described here fill this void and provide a resource for fast genome scanning for disease genes. We have evaluated 6,297 SNPs in a diversity panel composed of European Americans, African Americans, and Asians. The markers were assessed for assay robustness, suitable allele frequencies, and informativeness of multi-SNP clusters. Individuals from 56 Centre d'Etude du Polymorphisme Humain pedigrees, with >770 potentially informative meioses altogether, were genotyped with a subset of 2,988 SNPs, for map construction. Extensive genotyping-error analysis was performed, and the resulting SNP linkage map has an average map resolution of 3.9 cM, with map positions containing either a single SNP or several tightly linked SNPs. The order of markers on this map compares favorably with several other linkage and physical maps. We compared map distances between the SNP linkage map and the interpolated SNP linkage map constructed by the deCode Genetics group. We also evaluated cM/Mb distance ratios in females and males, along each chromosome, showing broadly defined regions of increased and decreased rates of recombination. Evaluations indicate that this SNP screening set is more informative than the Marshfield Clinic's commonly used microsatellite-based screening set.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

August 2003

Volume

73

Issue

2

Start / End Page

271 / 284

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Male
  • Humans
  • Genotype
  • Genome, Human
  • Genetics & Heredity
  • Genetic Testing
  • Gene Frequency
  • Female
  • DNA
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Matise, T. C., Sachidanandam, R., Clark, A. G., Kruglyak, L., Wijsman, E., Kakol, J., … Holden, A. L. (2003). A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. Am J Hum Genet, 73(2), 271–284. https://doi.org/10.1086/377137
Matise, Tara C., Ravi Sachidanandam, Andrew G. Clark, Leonid Kruglyak, Ellen Wijsman, Jerzy Kakol, Steven Buyske, et al. “A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.Am J Hum Genet 73, no. 2 (August 2003): 271–84. https://doi.org/10.1086/377137.
Matise TC, Sachidanandam R, Clark AG, Kruglyak L, Wijsman E, Kakol J, et al. A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. Am J Hum Genet. 2003 Aug;73(2):271–84.
Matise, Tara C., et al. “A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.Am J Hum Genet, vol. 73, no. 2, Aug. 2003, pp. 271–84. Pubmed, doi:10.1086/377137.
Matise TC, Sachidanandam R, Clark AG, Kruglyak L, Wijsman E, Kakol J, Buyske S, Chui B, Cohen P, de Toma C, Ehm M, Glanowski S, He C, Heil J, Markianos K, McMullen I, Pericak-Vance MA, Silbergleit A, Stein L, Wagner M, Wilson AF, Winick JD, Winn-Deen ES, Yamashiro CT, Cann HM, Lai E, Holden AL. A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. Am J Hum Genet. 2003 Aug;73(2):271–284.
Journal cover image

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

August 2003

Volume

73

Issue

2

Start / End Page

271 / 284

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Male
  • Humans
  • Genotype
  • Genome, Human
  • Genetics & Heredity
  • Genetic Testing
  • Gene Frequency
  • Female
  • DNA