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  • Patients with primary cataract as a genetic pool of DMPK protomutation
    Medica, Igor ...
    Myotonic dystrophy 1 (DM1) is known to diminish reproductive fitness in its severe form. Since no de novo mutations are known for this disease, it has thetendency to become extinct from a population. ... To explain the preservation of DM1 in a population, a hypothesis that a pool of subjects for the mutated gene exists in the apparently healthy (non-DM1) population was tested. In order to determine the (CTG) repeat number, PCR was performed in 274 patientsfound to have primary cataract of adult onset who showed no DM1 symptoms, and were not related to DM1 patients. In four cataract patients (1.46%; 95% CI 0.5-3.7), a protomutation in the myotonin protein kinase gene was found which might lead to a complete mutation after transmission through the next generations. The number of (CTG) repeats in the remaining 270 cataract patients did not differ significantly from the control subjects in terms of the distribution of larger š(CTG)n > or = 19đ versus smaller š(CTG)n < 19đ alleles. We consider the primary cataract patients to be the pool of DMPK protomutation from which DM1 mutation is maintained in the population.
    Vir: Journal of human genetics. - ISSN 1434-5161 (Letn. 52, št. 2, 2007, str. 123-128)
    Vrsta gradiva - članek, sestavni del
    Leto - 2007
    Jezik - angleški
    COBISS.SI-ID - 24119513
    DOI

vir: Journal of human genetics. - ISSN 1434-5161 (Letn. 52, št. 2, 2007, str. 123-128)
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