[A novel mutation of PRSS1 gene in a Chinese hereditary pancreatitis family].
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.
Liu
Qi-Cai
QC
Department of Laboratory Medicine, the First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China. lqc673@yahoo.com.cn
Cheng
Zu-Jian
ZJ
Yang
Yan
Y
Ou
Qi-Shui
QS
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*
D014362:Trypsinogen; C489303:PRSS1 protein, human; D014357:Trypsin