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

[benign recurrent intrahepatic cholestasis]

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 .

Diseases
Validation

Diseases presenting "common diseases" symptom

22q11.2 deletion syndrome

benign recurrent intrahepatic cholestasis

familial mediterranean fever

sneddon syndrome

x-linked adrenoleukodystrophy

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