Methodological study demonstrates targeted mutation detection for Werner syndrome in Japanese cohorts, highlighting scalable tools for clinical diagnosis and population screening.
Two genetic diagnostic systems were established to detect gene mutations that cause Werner's syndrome (WS), a premature aging disorder. The mutant allele specific amplification method permits a definition of the types of mutation of the gene (WRN) responsible for WS in WS patients or patients suspected of having WS. By contrast, the oligomer ligation assay method allows the analysis of many DNA samples, which can fit into a large epidemiologic study to investigate the spread of a certain WRN mutation in a given population using a small amount of genomic DNA extracted from a volunteer's blood. In this report, we describe in detail the two diagnostic systems for three representative mutations: 1, 4 and 6, which include about 90% of WRN mutations occurring in Japanese WS patients. Similar systems could also be applied for other WRN mutations endemic to other countries.
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Matsumoto et al. (1998) studied this question.
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