title: [A novel mutation of PRSS1 gene in a Chinese hereditary pancreatitis family].
abstract: We report the identification of a novel mutation in the protease serine 1 (PRSS1) gene in a hereditary pancreatitis (HP) family. Relevant clinical data were collected in this 24-member family. Moreover, the PRSS1 gene was amplified from the genomic DNA of the members with pancreatitis. The amplified products were analyzed by sequencing. A cytosine (C) to thymine (T) mutation in PRSS1 exon3 was detected in four affected members. This novel PRSS1 mutation may be an important factor associated with HP.
authors.affiliation: Department of Laboratory Medicine, the First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China. lqc673@yahoo.com.cn
authors.forename: Qi-Cai
authors.initials: QC
authors.lastname: Liu
authors.forename: Zu-Jian
authors.initials: ZJ
authors.lastname: Cheng
authors.forename: Yan
authors.initials: Y
authors.lastname: Yang
authors.forename: Qi-Shui
authors.initials: QS
authors.lastname: Ou
mesh_terms: D000328:Adult; D044466:Asian People; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014357:Trypsin; D014362:Trypsinogen / Q000235:genetics*
chemical_list: D014362:Trypsinogen; C489303:PRSS1 protein, human; D014357:Trypsin