ABCMdb

PMID: 11824793

Teich N, Ockenga J, Keim V, Mossner J
Genetic risk factors in chronic pancreatitis.
J Gastroenterol. 2002 Jan;37(1):1-9., [PubMed]

Sentences

No. Mutations Sentence Comment

14 ABCC7 p.Arg117His Other, i.e., toxic-metabolic, autoimmune, idiopathic, and obstructive causes were identified in chronic pancreatitis and have been extensively summarized in a recent review.4 The classical clinical feature of hereditary pancreatitis (HP; OMIM 167800) is characterized by the early onset of chronic pancreatitis in several members of one family without other etiological factors.5 A clear diagnosis or exclusion of HP is important, as these patients Received: July 27, 2001 / Accepted: September 28, 2001 Reprint requests to: J. Mössner trypsin numbering system as R117H and was later adapted to the trypsinogen nomenclature as R122H.15,16 As the mutation leads to a novel restriction site for Afl III, it was thought to be detected easily, and restriction digestion assays were used worldwide. Login to comment 70 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Approximately 72% of patients with cystic fibrosis are homozygous or compound heterozygous for eight mutations of the CFTR gene on chromosome 7: delta F508, G542X, R553X, W1282X, N1303K, 621 ϩ 1GÆT, 1717-1GÆA, and R117H; whereas the deletion delta F508 alone accounts for about 66% of mutant cystic fibrosis alleles. Login to comment