Genetic susceptibility of hypertension‐induced kidney disease

Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease

Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...

Genetic Investigation of Kidney Disease

Genetic susceptibility in Dupuytren’s disease

Dupuytren’s disease is a benign fibroproliferative disease of unknown aetiology. It is often familial and commonly affects Northern European Caucasian men, but genetic studies have yet to identify the relevant genes. Transforming growth factor beta one (TGF1) is a multifunctional cytokine which plays a central role in wound healing and fibrosis. It stimulates the proliferation of fibroblasts an...

Genetic susceptibility to Parkinson's disease.

Genetic factors clearly cause Lewy-body Parkinson's disease (PD) in a subset of autosomal-dominant families. However, most cases of PD are sporadic. The two most likely models of four discussed for sporadic PD are the reduced penetrance model and the multifactorial model. Sporadic PD is likely to be caused by the combined effect of environmental precipitating factors and genetic susceptibility ...

Histocompatibility-linked Genetic Control of Disease Susceptibility

Acute necrotizing inflammatory disease after intracerebral injection of LCM virus is largely dependent on the host immune response to the virus and is controlled, in part, by a dominant gene which is closely linked to the H-2 locus. The F(1) hybrid (H-2(q/k)) from mating a susceptible SWR/J mouse (H-2(q/q)) to a resistant C3H/HeJ mouse (H-2(k/k)) is susceptible to LCM virus disease. When such h...