Genetic Discrimination: No Longer Just Science Fiction

Genetic background to severe urinary tract infections

herry submitted, created time 1 year 4 months (www.eurekalert.org)

If you sit on cold boulders or forget to wear your woollen pants, you can develop a urinary tract infection. However, these diseases are more complicated than this, and in some cases they have a genetic background. Scientists at Lund University in Sweden have found a gene that appears to lie behind many of the most severe urinary tract infections. The study is published September 5 in the online, open-access journal PLoS ONE.

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Genotype–Phenotype Correlations in Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease

medal submitted, created time 1 year 8 months (jasn.asnjournals.org)

"The phenotypes that are associated with the common forms of polycystic kidney disease (PKD)—autosomal dominant (ADPKD) and autosomal recessive (ARPKD)—are highly variable in penetrance. This is in terms of severity of renal disease, which can range from neonatal death to adequate function into old age, characteristics of the liver disease, and other extrarenal manifestations in ADPKD. Influences of the germline mutation are at the genic and allelic levels, but intrafamilial variability indicates that genetic background and environmental factors are also key."

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