Linkage-disequilibrium mapping without genotyping

Vivian G. Cheung, Jeffrey Gregg, Kathryn J. Gogolin-Ewens, Jonathan Bandong, Charles A. Stanley, Lester Baker, Michael J. Higgins, Norma J. Nowak, Thomas B. Shows, Warren J. Ewens, Stanley F. Nelson, Richard S. Spielman

Research output: Contribution to journalArticlepeer-review

66 Scopus citations


Genomic mismatch scanning (GMS) is a technique that enriches for regions of identity by descent (IBD) between two individuals without the need for genotyping or sequencing. Regions of IBD selected by GMS are mapped by hybridization to a microarray containing ordered clones of genomic DNA from chromosomes of interest. Here we demonstrate the feasibility and efficacy of this form of linkage-mapping, using congenital hyperinsulinism (HI), an autosomal recessive disease, whose relatively high frequency in Ashkenazi Jews suggests a founder effect. The gene responsible (SUR1) encodes the sulfonylurea receptor, which maps to chromosome 11p15.1. We show that the combination of GMS and hybridization of IBD products to a chromosome-11 microarray correctly maps the HI gene to a 2-Mb region, thereby demonstrating linkage-disequilibrium mapping without genotyping.

Original languageEnglish (US)
Pages (from-to)225-230
Number of pages6
JournalNature Genetics
Issue number3
StatePublished - 1998

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


Dive into the research topics of 'Linkage-disequilibrium mapping without genotyping'. Together they form a unique fingerprint.

Cite this