Norovirus (NV) is an important cause of acute nonbacterial gastroenteritis worldwide. Recently, several sporadic cases due to naturally occurring recombinant NVs have been reported. In January 2000, there was an outbreak of gastroenteritis in an infant home in Sapporo, Japan. Of 34 residents of the home that were less than 2 years old, 23 developed gastrointestinal symptoms and NV infection was...

Patients with pseudohypoparathyroidism type Ib (PHP-Ib) have hypocalcemia and hyperphosphatemia due to renal parathyroid hormone (PTH) resistance, but lack physical features of Albright hereditary osteodystrophy. PHP-Ib is thus distinct from PHP-Ia, which is caused by mutations in the GNAS exons encoding the G protein alpha subunit. However, an imprinted autosomal dominant form of PHP-Ib (AD-PH...

Linkage analysis in familial breast and ovarian cancer and studies of allelic deletion in sporadic ovarian tumors have suggested that chromosome 17q may be the location of a gene of importance in ovarian carcinogenesis. We have examined tumor and normal DNA samples from 120 patients with ovarian tumors for allelic deletion at 12 loci on chromosome 17q. Allelic deletion was observed in 64 cases ...

Dura mater graft-associated Creutzfeldt-Jakob disease (dCJD) can be divided into two subgroups that exhibit distinct clinical and neuropathological features, with the majority represented by a non-plaque-type of dCJD (np-dCJD) and the minority by a plaque-type of dCJD (p-dCJD). The two distinct phenotypes of dCJD had been considered to be unrelated to the genotype (methionine, M or valine, V) a...

the oromandibular-limb hypogenesis syndrome comprises a group of anomalies which simultaneously affect the mandible, tongue, and maxilla with or without reductive limb anomalies. it is characterized by failure of development of the intraoral region and distal extremities. multiple and variable deformities of the mandible, maxilla and tongue may occur in combination with a variety of limb defect...

A novel approach was used to estimate the in vivo mutation rate of the retinoblastoma gene. A mathematical formula can be used to calculate the probability of neoplasia induced by one or more mutations in a population of dividing cells. This formula can then be applied to epidemiological data on hereditary and sporadic retinoblastoma. The analysis yields an estimate of the in vivo mutation rate...

Breast cancer is the most common female malignancy in the Western world and approximately 5-10% of all breast cancer cases present with some degree of family history. In the mid-nineties genetic linkage analyses successfully identified two breast cancer predisposing genes, BRCA1 and BRCA2. Mutations in these genes are responsible for the majority of large early onset breast and breast-ovarian c...

Introduction Von Hippel-Lindau (VHL) disease is a complex, autosomal, dominant inherited disorder, variably presenting with retinal and cerebellar haemangioblastoma, renal cell carcinoma, phaeochromocytoma and endolymphatic sac tumours. Cysts and cystadenoma may develop in kidney, pancreas and epididymis. Germline mutations in the VHL tumour suppressor gene are found in most of the families ful...