A locus for Peutz-Jeghers syndrome (PJS) was recently mapped to chromosome l9pl3.3. Each of 12 families studied was compatible with linkage to the marker D19S886. We have analysed 20 further families and found that the majority of these are consistent with a PJS gene on l9pl3.3. Three families were, however, unlinked to l9pI3.3 and none of the available PJS polyps from these families showed allele loss at D19S886. There were no obvious clinicopathological or ethnic differences between the 19pl3.3 linked and unlinked families. There appears, therefore, to be a major PJS locus on chromosome l9pl3.3 and the possibility exists of a minor locus (or loci) elsewhere. (JMed Genet 1998;35:42-44)
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