Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation.

Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullary adenomatous polyposis, in association with three bilateral adrenocortical adenomas, is presented.

Characterization of a C-type retrovirus isolated from an HIV infected cell line: complete nucleotide sequence.

As previously reported, a C-type retrovirus, referred to as retrovirus X was isolated from HIV infected cells. In order to further characterize this virus, the proviral DNA was cloned and sequenced. The organization of the genome (8379 bp) appeared to be typical of the mammalian type C retroviruses.

Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds.

Among 23 germline mutations identified in the APC screening of 45 familial adenomatous polyposis (FAP) patients, we have found 10 different novel frameshift mutations in 11 apparently unrelated patients. In two cases, an additional missense mutation was detected. One previously described as a causative germline mutation (S2621C), associated with a 1-bp insertion (4684insA) on the opposite allele, did not segregate with the FAP phenotype in the family and was therefore considered as being non-pathogenic.

Hepatitis C virus genotypes in hemodialyzed patients: a multicentric study.

The few studies concerning HCV genotypes in hemodialyzed patients concerned small groups of patients, issued from single units. Using the RFLP typing method in the 5' non-coding region (5' NCR), we performed the genotyping of HCV strains of 80 patients issued from 14 Belgian dialysis units. Forty-seven of the 80 patients were also tested by Inno-Lipa II (Innogenetics, Gent, Belgium).

The genetic background of familial adenomatous polyposis. Linkage analysis, the APC gene identification and mutation screening.

Familial adenomatous polyposis (FAP) is an autosomal, dominantly inherited disease that predisposes to colorectal cancer and is characterized by the presence of hundreds to thousands of adenomas covering the colon and rectum. Mapping of the FAP locus to 5q21-q22 by linkage studies in families ultimately allowed the identification of the APC (Adenomatous Polyposis Coli) gene itself. The APC gene comprises 15 exons with a 9 kilobase RNA transcript and a 312 kilodalton final protein product.

Autosomal dominant polycystic kidney disease in the first year of life. Report of a case with no family history.

Autosomal recessive polycystic kidney disease (RPKD) (also called infantile polycystic kidney disease) and autosomal dominant polycystic kidney disease (DPKD) (or adult form) are the two main types of genetic polycystic kidney diseases (PKD) encountered in children and infants. We report here a case of DPKD with no family history and discuss the main features leading to the differential diagnosis between these two types of PKD, their prognosis and the importance of making the right diagnosis for the genetic counselling.

A locus involved in kanamycin, chloramphenicol and L-serine resistance is located in the bglY-galU region of the Escherichia coli K12 chromosome.

Spontaneous mutants of Escherichia coli K12 displaying an increased level of the kanamycin resistance conferred by plasmid pGR71 were selected. Several mutants obtained in this way apparently carry large chromosomal deletions extending into galU and/or bglY (27 min). This positive selection of deletions allowed detection of a new locus located between galU and bglY.