Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis


Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

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ABSTRACT It is now feasible to map disease genes by screening the genome for linkage disequilibrium between the disease and marker alleles. This report presents the first application of this


approach for a previously unmapped locus. A gene for benign recurrent intrahepatic cholestasis (_BRIC_) was mapped to chromosome 18 by searching for chromosome segments shared by only three


distantly related patients. The screening results were confirmed by identifying an extended haplotype conserved between the patients. Probability calculations indicate that such segment


sharing is unlikely to arise by chance. Searching the genome for segments shared by patients is a powerful empirical method for mapping disease genes. Computer simulations suggest that, in


appropriate populations, the approach may be used to localize genes for common diseases. Access through your institution Buy or subscribe This is a preview of subscription content, access


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* Wilhelmina Children's Hospital Utrecht, The Netherlands Roderick H. J. Houwen & Jenneke Juyn * Neurogenetics Laboratory and Center for Neurobiology and Psychiatry, Department of


Psychiatry, University of California, San Francisco, Box F-0984, San Francisco, California, 94143, USA Siamak Baharloo, Kathleen Blankenship & Nelson B. Freimer * Center for Human


Genetics, University of Leuven, Campus Gasthuisberg, Herestraat 49, Leuven, B-3000, Belgium Peter Raeymaekers * Institute of Clinical Genetics, Erasmus University, Rotterdam Lodewijk A.


Sandkuijl * Department of Human Genetics, Leiden University, The Netherlands Lodewijk A. Sandkuijl Authors * Roderick H. J. Houwen View author publications You can also search for this


author inPubMed Google Scholar * Siamak Baharloo View author publications You can also search for this author inPubMed Google Scholar * Kathleen Blankenship View author publications You can


also search for this author inPubMed Google Scholar * Peter Raeymaekers View author publications You can also search for this author inPubMed Google Scholar * Jenneke Juyn View author


publications You can also search for this author inPubMed Google Scholar * Lodewijk A. Sandkuijl View author publications You can also search for this author inPubMed Google Scholar * Nelson


B. Freimer View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Houwen,


R., Baharloo, S., Blankenship, K. _et al._ Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. _Nat Genet_ 8, 380–386 (1994).


https://doi.org/10.1038/ng1294-380 Download citation * Received: 21 March 1994 * Accepted: 19 October 1994 * Issue Date: 01 December 1994 * DOI: https://doi.org/10.1038/ng1294-380 SHARE THIS


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