Patients with primary cataract as a genetic pool of DMPK protomutation
| Autor: | Borut Peterlin, Natasa Teran, Igor Medica, Marija Volk, Edi Ladavac, Vladimir Pfeifer |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Adult
Male musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities Genotype Population Physiology Disease Protein Serine-Threonine Kinases Biology medicine.disease_cause Myotonic dystrophy Cataract Myotonin-Protein Kinase Genetics medicine Humans Myotonic Dystrophy Allele education Gene Genetics (clinical) Aged Aged 80 and over Mutation education.field_of_study Myotonin-protein kinase Middle Aged medicine.disease Phenotype Case-Control Studies Female Gene pool Trinucleotide Repeat Expansion |
| Zdroj: | Journal of Human Genetics. 52:123-128 |
| ISSN: | 1435-232X 1434-5161 |
| DOI: | 10.1007/s10038-006-0091-4 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink