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

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Medical Genetics British Medical Journal

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

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

Olschwang, S; Markie, D; Seal, S; Neale, K; Phillips, R; Cottrell, S; Ellis, I; Hodgson, S; Zauber, P; Spigelman, A; Iwama, T; Loff, S; McKeown, C; Marchese, C; Sampson, J; Davies, S; Talbot, I; Wyke, J; Thomas, G; Bodmer, W; Hemminki, A; Avizienyte, E; de la Chapelle, A; Aaltonen, L; Tomlinson, I
Journal of Medical Genetics , Volume 35 (1) – Jan 1, 1998

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.

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References (8)

Publisher
British Medical Journal
ISSN
0022-2593
eISSN
1468-6244
DOI
10.1136/jmg.35.1.42
Publisher site
See Article on Publisher Site

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.

Journal

Journal of Medical Genetics – British Medical Journal

Published: Jan 1, 1998

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