Two translocations of chromosome 15q associated with dyslexia
| Autor: | Tuomas Haltia, Jaana Nopola-Hemmi, Arja Voutilainen, Mikko Taipale, Juha Kere, Anna-Elina Lehesjoki |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Adult
Genetic Markers Male Chromosomes Artificial Bacterial Adolescent Chromosomal translocation Locus (genetics) Biology behavioral disciplines and activities Translocation Genetic Genetic determinism Dyslexia 03 medical and health sciences 0302 clinical medicine Genetic linkage DCDC2 mental disorders Genetics medicine Humans Child Chromosomes Artificial Yeast In Situ Hybridization Fluorescence Genetics (clinical) 030304 developmental biology Chromosomes Human Pair 15 0303 health sciences Physical Chromosome Mapping Chromosome Breakage Original Articles medicine.disease Chromosome Banding Pedigree nervous system diseases Karyotyping Female Chromosome breakage psychological phenomena and processes 030217 neurology & neurosurgery |
| Zdroj: | Journal of Medical Genetics. 37:771-775 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.37.10.771 |
| Popis: | Developmental dyslexia is characterised by difficulties in learning to read. As reading is a complex cognitive process, multiple genes are expected to contribute to the pathogenesis of dyslexia. The genetics of dyslexia has been a target of molecular studies during recent years, but so far no genes have been identified. However, a locus for dyslexia on chromosome 15q21 (DYX1) has been established in previous linkage studies. We have identified two families with balanced translocations involving the 15q21-q22 region. In one family, the translocation segregates with specific dyslexia in three family members. In the other family, the translocation is associated with dyslexia in one family member. We have performed fluorescence in situ hybridisation (FISH) studies to refine the position of the putative dyslexia locus further. Our results indicate that both translocation breakpoints on 15q map within an interval of approximately 6-8 Mb between markers D15S143 and D15S1029, further supporting the presence of a locus for specific dyslexia on 15q21. Keywords: dyslexia; reading disability; chromosome 15; translocation |
| Databáze: | OpenAIRE |
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