作者
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
发表日期
1996/4/1
期刊
Human molecular genetics
卷号
5
期号
4
页码范围
549-554
出版商
Oxford University Press
简介
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 …
引用总数
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L Le Bodic, JD Bignon, O Raguénès, B Mercier… - Human molecular genetics, 1996