X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85
| Autor: | Jussi Kärnä, Tiina Alitalo, Albert de la Chapelle, Henjik Forsius |
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| Rok vydání: | 2008 |
| Předmět: |
Genetic Markers
Male X Chromosome Genetic Linkage Retinoschisis Genes Recessive Locus (genetics) Biology 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Gene Genetics (clinical) X chromosome 030304 developmental biology 0303 health sciences Hybridization probe Retinal Perforations medicine.disease 030221 ophthalmology & optometry X-linked retinoschisis Distal segment Restriction fragment length polymorphism Polymorphism Restriction Fragment Length |
| Zdroj: | Clinical Genetics. 32:192-195 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1987.tb03353.x |
| Popis: | A linkage study was carried out in nine families with 24 males affected by X-linked recessive retinoschisis (RS), using three polymorphic DNA probes from the distal segment of Xp. Close linkage of the disease locus with markers DXS41 (probe p99-6) and DXS16 (pXUT23) was found, confirming the location of the RS gene on the distal short arm of the X chromosome. Lod scores for linkage with DXS85 (probe 782) were negative. |
| Databáze: | OpenAIRE |
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