In various races, genetic backgrounds have great impacts on genetic epidemiological profiles of genetic diseases. These backgrounds include social isolation, geographical isolation, nonrandom mating, bottle neck phenomenon and genetic drifts.
Although we, Japanese, have been considered to be genetically homogeneous, we are genetically heterogeneous due to social and geographical isolations in the medieval era as shown in the present study.
Consequently, each local cluster has unique population genetic profiles as exemplified by founder mutations for various autosomal recessive diseases. In contrast, no founder mutations were found for autosomal dominant diseases as shown in this project.
These facts imply that recessive diseases are effectively and efficiently diagnosed using founder effects specific to the residential areas.
We tried to evaluate functionally the mutated proteins in an attempt to develop a general methodology to predict functional alterations. In this project, we evaluated mutations of proinsulin Akita as an example.
The prevalences of genetic diseases are very widely perturbed by the population history and social systems. It is necessary to promote research activities for genetic epidemiology and functional proteomics