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

65 Scopus citations

Abstract

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
Volume18
Issue number3
DOIs
StatePublished - 1998

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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