caa a22 4500 397574711 CHVBK 20180308164852.0 cr unu---uuuuu 161202e199604 xx s 000 0 eng 10.1093/hmg/5.4.549 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.4.549 The Hereditary Pancreatitis Gene Maps to Long Arm of Chromosome 7 [Elektronische Daten] [Louis Le Bodic, Jean-Denis Bignon, Odile Raguénès, Bernard Mercier, Thierry Georgelin, Mathieu Schnee, François Soulard, Katia Gagne, Françoise Bonneville, Jean-Yves Muller, Lucien Bachner, Claude Férec] Hereditary pancreatitis (HP) is an autosomal dominant disorder with incomplete penetrance characterized by recurring episodes of severe abdominal pain often presenting in childhood. Although this disorder has only been recently described, about 100 families have been documented worldwide. The pathophysiology of this disorder is unknown. Here, a large French family of 147 individuals (47 of whom were affected) from a four-generation kindred with HP has been examined and a genome segregation analysis of highly informative microsatellite markers has been performed. Linkage has been found between HP and six chromosome 7q markers. Maximal two point lod scores between HP and D7S 640, D7S 495, D7S 684, D7S 661, D7S 676 and D7S 688 were 4.00 (θ = 0.143), 5.85 (θ = 0.143), 4.91 (θ = 0.156), 8.58 (θ = 0.077), 8.28 (θ = 0.060), 4.40 (θ = 0.169), respectively. Multipoint linkage data combined with recombinant haplotype analysis indicated that the most likely order is: D7S 640 - D7S 495 - D7S 684 - D7S 661 - D7S 676 - D7S 688, with the HP gene situated in the underlined region. As in all families reported in the literature, the clinical presentation of the disease is identical to the presentation of sporadic cases, one could expect that the knowledge of the HP gene could be a clue to pancreatitis in general. Based on its map position, this is the first step towards the positional cloning of the Hereditary Pancreatitis Gene (HPG). © 1996 Oxford University Press Le Bodic Louis Clinique des Maladies de l'Appareil Digestif, Hôpital Laënnec, BP 1005, Nantes Cedex 01, France aut Bignon Jean-Denis Laboratoire d'Histocompatibilité, ETS Loire-Atlantique/Vendée, BP 349, 44011 Nantes Cedex 01, France aut Raguénès Odile Centre de Biogénétique, Hospital, University, ETSBO, BP 454, 29275 Brest Cedex, France aut Mercier Bernard Centre de Biogénétique, Hospital, University, ETSBO, BP 454, 29275 Brest Cedex, France aut Georgelin Thierry Clinique des Maladies de l'Appareil Digestif, Hôpital Laënnec, BP 1005, Nantes Cedex 01, France aut Schnee Mathieu Clinique des Maladies de l'Appareil Digestif, Hôpital Laënnec, BP 1005, Nantes Cedex 01, France aut Soulard François Clinique des Maladies de l'Appareil Digestif, Hôpital Laënnec, BP 1005, Nantes Cedex 01, France aut Gagne Katia Laboratoire d'Histocompatibilité, ETS Loire-Atlantique/Vendée, BP 349, 44011 Nantes Cedex 01, France aut Bonneville Françoise Laboratoire d'Histocompatibilité, ETS Loire-Atlantique/Vendée, BP 349, 44011 Nantes Cedex 01, France aut Muller Jean-Yves Laboratoire d'Histocompatibilité, ETS Loire-Atlantique/Vendée, BP 349, 44011 Nantes Cedex 01, France aut Bachner Lucien GIS INFOBIOGEN, 7 rue Guy Mocquet, BP8, 94801 Villejuif Cedex, France aut Férec Claude Centre de Biogénétique, Hospital, University, ETSBO, BP 454, 29275 Brest Cedex, France aut Human Molecular Genetics Oxford University Press 5/4(1996-04), 549-554 0964-6906 5:4<549 1996 5 hmg https://doi.org/10.1093/hmg/5.4.549 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.4.549 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Le Bodic Louis Clinique des Maladies de l'Appareil Digestif, Hôpital Laënnec, BP 1005, Nantes Cedex 01, France aut NATIONALLICENCE 700 1- Bignon Jean-Denis Laboratoire d'Histocompatibilité, ETS Loire-Atlantique/Vendée, BP 349, 44011 Nantes Cedex 01, France aut NATIONALLICENCE 700 1- Raguénès Odile Centre de Biogénétique, Hospital, University, ETSBO, BP 454, 29275 Brest Cedex, France aut NATIONALLICENCE 700 1- Mercier Bernard Centre de Biogénétique, Hospital, University, ETSBO, BP 454, 29275 Brest Cedex, France aut NATIONALLICENCE 700 1- Georgelin Thierry Clinique des Maladies de l'Appareil Digestif, Hôpital Laënnec, BP 1005, Nantes Cedex 01, France aut NATIONALLICENCE 700 1- Schnee Mathieu Clinique des Maladies de l'Appareil Digestif, Hôpital Laënnec, BP 1005, Nantes Cedex 01, France aut NATIONALLICENCE 700 1- Soulard François Clinique des Maladies de l'Appareil Digestif, Hôpital Laënnec, BP 1005, Nantes Cedex 01, France aut NATIONALLICENCE 700 1- Gagne Katia Laboratoire d'Histocompatibilité, ETS Loire-Atlantique/Vendée, BP 349, 44011 Nantes Cedex 01, France aut NATIONALLICENCE 700 1- Bonneville Françoise Laboratoire d'Histocompatibilité, ETS Loire-Atlantique/Vendée, BP 349, 44011 Nantes Cedex 01, France aut NATIONALLICENCE 700 1- Muller Jean-Yves Laboratoire d'Histocompatibilité, ETS Loire-Atlantique/Vendée, BP 349, 44011 Nantes Cedex 01, France aut NATIONALLICENCE 700 1- Bachner Lucien GIS INFOBIOGEN, 7 rue Guy Mocquet, BP8, 94801 Villejuif Cedex, France aut NATIONALLICENCE 700 1- Férec Claude Centre de Biogénétique, Hospital, University, ETSBO, BP 454, 29275 Brest Cedex, France aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/4(1996-04), 549-554 0964-6906 5:4<549 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford