| Autor: |
J E, Richards, P R, Lichter, M, Boehnke, J L, Uro, D, Torrez, D, Wong, A T, Johnson |
| Rok vydání: |
1994 |
| Předmět: |
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| Zdroj: |
American journal of human genetics. 54(1) |
| ISSN: |
0002-9297 |
| Popis: |
A large Caucasian family is presented, in which a juvenile-onset form of open-angle glaucoma is transmitted in an autosomal dominant fashion. Sixteen affected family members were identified from 31 at-risk individuals descended from the affected founder. Affected patients developed high intraocular pressures (sometimes > 40 mm Hg) within the first 2 decades of life. Linkage analysis between the disease phenotype and 12 microsatellite repeat markers located on chromosome 1q gave a maximum lod score of 8.38 at a recombination fraction of zero for marker D1S210. Analysis of recombinant haplotypes suggests a total inclusion region of about 14 cM between markers D1S194 and D1S218 at 1q21-q31. This represents the second juvenile-glaucoma family, in which the disease has been mapped to the long arm of chromosome 1. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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