[A novel mutation of PRSS1 gene in a Chinese hereditary pancreatitis family]

Yi Chuan. 2007 Sep;29(9):1067-70. doi: 10.1360/yc-007-1067.
[Article in Chinese]

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian People
  • Base Sequence
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Humans
  • Male
  • Mutation*
  • Pancreatitis / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Trypsin
  • Trypsinogen / genetics*

Substances

  • Trypsinogen
  • PRSS1 protein, human
  • Trypsin