THE HEREDITARY PANCREATITIS GENE MAPS TO LONG ARM OF CHROMOSOME-7

Hereditary pancreatitis (HP) is an autosomal dominant disorder with in complete penetrance characterized by recurring episodes of severe abdo minal pain often presenting in childhood, Although this disorder has o nly been recently described, about 100 families have been documented w orldwide, The pathophysiology of this disorder is unknown, Here, a lar ge French family of 147 individuals (47 of whom were affected) from a four-generation kindred with HP has been examined and a genome segrega tion analysis of highly informative microsatellite markers has been pe rformed. Linkage has been found between HP and six chromosome 7q marke rs, Maximal two point lod scores between HP and D7S 640, D7S 495, D7S 684, D7S 661, D7S 676 and D7S 688 were 4.00 (theta = 0.143), 5.85 (the ta = 0.143), 4.91 (theta = 0.156), 8.58 (theta = 0.077), 8.28 (theta = 0.060), 4.40 (theta = 0.169), respectively, Multipoint linkage data c ombined with re-combinant haplotype analysis indicated that the most l ikely 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 ail fa milies reported in the literature, the clinical presentation of the di sease is identical to the presentation of sporadic cases, one could ex pect 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).