Peutz-Jeghers disease: Most, but not all, families are compatible with linkage to 19p13.3

Egle Mcdonald, Sylviane Olschwang, David Markie, Sheila Seal, Kay Neale, Robin Phillips, Sally Cottrell, Lan Ellis, Shirley Hodgson, Peter Zauber, Allan Spigelman, Takeo Iwama, Steffan Loff, Carole McKeown, Cristiana Marchese, Julian Sampson, Sally Davies, Ian Talbot, John Wyke, Gilles ThomasWalter Bodmer, Akseli Hemminki, Egle Avizienyte, Albert De La Chapelle, Lauri Aaltonen, Michael Stratton, Richard Houlston, Ian Tomlinson

    Research output: Contribution to journalArticlepeer-review

    Abstract

    A locus for Peutz-Jeghers syndrome (PJS) was recently mapped to chromosome 19p13.3. 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 19p13.3. Three families were, however, unlinked to 19p13.3 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 19p13.3 linked and unlinked families. There appears, therefore, to be a major PJS locus on chromosome 19p13.3 and the possibility exists of a minor locus (or loci) elsewhere.
    Original languageEnglish
    Pages (from-to)42-44
    Number of pages2
    JournalJournal of Medical Genetics
    Volume35
    Issue number1
    Publication statusPublished - 1998

    Keywords

    • 19p13.3
    • Linkage
    • Peutz-Jeghers disease

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