Heterozygosity for the Cys282Tyr mutation of HFE does not appear to be a risk factor for colorectal carcinoma.

A family is presented with attenuated familial adenomatous polyposis of variable phenotype. The clinical features range from sparse right‐sided polyposis and cancer in the proximal colon at the age of 34 to pan‐colonic polyposis and cancer at the age of 68. Rectal sparing is common to all affected members. Heteroduplex analysis detected bands of altered mobility in exon 9 of the APC gene in all affected family members. Subsequently, a frameshift mutation was found in the alternatively spliced region of exon 9 at codon 398 which resulted in a stop signal 4 codons downstream. Alternatively spliced transcripts that delete the mutation were readily amplified from normal colonic mucosa and therefore create a mechanism for the attenuated phenotype seen in this family. Hum Mutat 11:450–455, 1998. © 1998 Wiley‐Liss, Inc.

No abstract

A family is presented with attenuated familial adenomatous polyposis of variable phenotype. The clinical features range from sparse right-sided polyposis and cancer in the proximal colon at the age of 34 to pan-colonic polyposis and cancer at the age of 68. Rectal sparing is common to all affected members. Heteroduplex analysis detected bands of altered mobility in exon 9 of the APC gene in all affected family members. Subsequently, a frameshift mutation was found in the alternatively spliced region of exon 9 at codon 398 which resulted in a stop signal 4 codons downstream. Alternatively spliced transcripts that delete the mutation were readily amplified from normal colonic mucosa and therefore create a mechanism for the attenuated phenotype seen in this family.

The aim of this study was to investigate the correlation between the Dirofilk immitis antigen and morphology response of pulmonary tissue. The pulmonary arteries of D.immitis naive dogs were infused with an antigenic extract of adult female D. immitis worms. Light and electron microscopy and an assessment of vascular permeability were performed to compare arterial pathology 1 h and 5 days after antigen infusion. Thrombus formation accompanied by perivascular edema was present initially, but it was not detectable after 5 days. 772TARISH and ATWELL D. immitis antigen extracts were infused into the pulmonary tissue of dogs to investigate the possible interaction between the presence of parasite antigen and associated local pathology. Material and Methods AnimalsSixteen healthy 5-6 month old dogs of mixed breed and of both sexes were obtained from a refuge and housed in a temperature and humidity controlled animal facility at the School of Veterinary Science, University of Queensland. Blood smear examinations for microfilariae of D. immitis were negative in all dogs. During the 3 week period of acclimatisation the dogs were treated with anthelmintic, Fenbendazole ("Panacur", Hoechst Australia Ltd., Melbourne, Vic.) and vaccinated against canine distemper, hepatitis and parvovirus ("Canine 3" Arthur Webster, Northead, N. S. W.).