Avtor/Urednik		Ravnik-Glavač, M; Glavač, D; di Sant-Agnese, P; Chernick, M; Dean, M
Naslov		Cystic fibrosis gene mutations detected in hereditary pancreatitis
Tip		članek
Vir		Pflugers Arch
Vol. in št.		Letnik 431, št. 6 Suppl 2
Leto izdaje		1996
Obseg		str. R191-2
Jezik		eng
Abstrakt		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 PNA 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.
Deskriptorji		PANCREATITIS CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE DELETION HEREDITARY DISEASES POLYMERASE CHAIN REACTION POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL