Patients with primary cataract as a genetic pool of DMPK protomutation

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• 作者：Igor Medica ; Natasa Teran ; Marija Volk ; Vladimir Pfeifer ; Edi Ladavac and Borut Peterlin
• 关键词：Myotonic dystrophy type 1 ; Mutation preservation ; Cataract patients ; Premutation ; Protomutation
• 刊名：Journal of Human Genetics
• 出版年：2007
• 出版时间：February, 2007
• 年：2007
• 卷：52
• 期：2
• 页码：123-128
• 全文大小：157 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Molecular Medicine
  Cancer Research
  Cell Biology
  Immunology
  Neurosciences
  
• 出版者：Springer Japan
• ISSN：1435-232X

文摘

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 the tendency 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 patients found 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 [(CTG)n ≥ 19] versus smaller [(CTG)n < 19] alleles. We consider the primary cataract patients to be the pool of DMPK protomutation from which DM1 mutation is maintained in the population.