Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease

Article Abstract:

Researchers have determined that independent mutational events and founder effect are responsible for the geographically based distribution of the hereditary form of Creutzfeldt-Jakob disease. Studies targeting the PRNP gene's 200K mutation and selected microsatellite markers revealed that haplotypes in different regions are unique, but follow the migratory patterns of ancestral carriers.

Central nervous system diseases, Creutzfeldt-Jakob disease

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COL9A3: a third locus for multiple epiphyseal dysplasia

Article Abstract:

Studies have identified an additional locus for the bone disease multiple epiphyseal dysplasia. This new locus, COL9A3, joins two other loci for the osteochondrodysplasia disorder. Discovery was made via clinical and radiological evaluation and linkage testing with candidate genes. Results were confirmed via mutation analysis, which showed a acceptor splice site transversion.

Bone diseases

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