Molecular Genetic Analysis in Autosomal Dominant Keratoconus
| Autor: | Clair A. Francomano, Danping Zhu, Yaron S. Rabinowitz, Irene H. Maumenee, Erik Puffenberger, Stelianos Antonarakis, Maureen K. Lundergan |
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| Rok vydání: | 1992 |
| Předmět: |
Adult
Aged 80 and over Genetics Keratoconus Chromosomes Human Pair 21 Genetic Linkage DNA Middle Aged Biology medicine.disease Pedigree Molecular analysis Ophthalmology Haplotypes medicine Humans Collagen Three generations DNA Probes Molecular Biology Alleles Polymorphism Restriction Fragment Length Aged |
| Zdroj: | Cornea. 11:302-308 |
| ISSN: | 0277-3740 |
| DOI: | 10.1097/00003226-199207000-00005 |
| Popis: | Members in three generations of a family whose propositus had keratoconus were examined by biomicroscopy, with a corneoscope and a computer-assisted videophoto-keratoscope. Keratoconus was detected in eight of 15 family members with vertical transmission consistent with autosomal dominant inheritance. Affected individuals displayed variable topographic features. Abortive "nipple-type" cones were identified in some individuals in successive generations using the computer-assisted videophotokeratoscope and more advanced nipple-type cones detected on biomicroscopy of other family members. We selected a COL6A1 cDNA (the gene encoding the alpha 1 chain of type VI collagen) as a "candidate gene" to determine cosegregation with the disease locus. Linkage analysis excluded a gene locus for keratoconus on the most telomeric region of chromosome 21 in this family. |
| Databáze: | OpenAIRE |
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