Cystic fibrosis gene mutations detected in hereditary pancreatitis.
To determine the potential role of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene in the etiology of Hereditary Pancreatits (HP), we analyzed this gene in two HP families. PCR-SSCP analysis was employed, followed by direct sequencing of DNA samples showing alterations by SSCP. A new alteration not yet detected in connection with CF was detected in one HP family. The alteration is in exon 7 and causes an amino acid change from Leu to Arg at position 327 (L327R). L327R segregates with the disease within the family. We discovered another novel alteration (V1190P) in an HP patient of the second family. These results indicate that CFTR gene mutations may be involved in the etiology of HP and represent a challenge for further study of the role of (CTFR) in other digestive diseases.
Ravnik-Glavac
M
M
Institute of Biochemistry, Medical Faculty, University of Ljubljana, Slovenia.
Glavac
D
D
di Sant' Agnese
P
P
Chernick
M
M
Dean
M
M
D001345:Autoradiography; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005091:Exons / Q000502:physiology; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000502:physiology*; D010195:Pancreatitis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA