Hereditary pancreatitis caused by triplication of the trypsinogen locus

被引：151

作者：

Le Marechal, Cedric

Masson, Emmanuelle

Chen, Jian-Min ^{[1
]}

Morel, Frederic

Ruszniewski, Philippe

Levy, Philippe

Ferec, Claude

机构：

[1] INSERM, U613, F-29220 Brest, France

[2] Univ Bretagne Occidentale, Fac Med Brest & Sci Sante, F-29238 Brest, France

[3] CHU Brest, Hop Morvan, Lab Genet Mol & Histocompatibil, F-29220 Brest, France

[4] Etablissement Francais Sang Bretagne, F-29220 Brest, France

[5] CHRU Brest, Hop Morvan, Serv Cytogenet Cytol & Biol Reprod, F-29238 Brest, France

[6] Hop Beaujon, AP HP, Pole Maladies Appareil Digest, F-92118 Clichy, France

来源：

NATURE GENETICS | 2006年 / 38卷 / 12期

关键词：

D O I：

10.1038/ng1904

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary pancreatitis has been reported to be caused by 'gain-of-function' missense mutations in the cationic trypsinogen gene (PRSS1). Here we report the triplication of a similar to 605-kb segment containing the PRSS1 gene on chromosome 7 in five families with hereditary pancreatitis. This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis.

引用

页码：1372 / 1374

页数：3

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