Abstract | PURPOSE: METHODS: RESULTS: Significant evidence of linkage to the posterior polymorphous corneal dystrophy 1 interval was obtained with both single-point and multipoint analyses. The largest single-point log odds ratio score obtained was 4.38 (theta=0) at marker D20S471; within 4.7 Mbp (7.2 cM) of D20S471 eight markers provided single-point log odds ratio scores of greater than 3.00 and three markers provided single-point log odds ratio scores greater than 4.00. The largest multipoint log odds ratio score obtained was 4.83, found across the adjacent markers D20S844, D20S191, D20S484, and D20S111. The support interval for posterior polymorphous corneal dystrophy 1 in the family we report is approximately 13.5 Mbp (10 cM) long and lies between the markers D20S182 and D20S195. Eleven markers have multipoint log odds ratio scores greater than 4.0 within this region. No coding region mutations were identified in TCF8 in an affected member of the family, effectively excluding posterior polymorphous corneal dystrophy 3. CONCLUSIONS:
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Authors | Vivek S Yellore, Jeanette C Papp, Eric Sobel, M Ali Khan, Sylvia A Rayner, Debora B Farber, Anthony J Aldave |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
Vol. 9
Issue 4
Pg. 228-34
(Apr 2007)
ISSN: 1098-3600 [Print] United States |
PMID | 17438387
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- Homeodomain Proteins
- Transcription Factors
- ZEB1 protein, human
- Zinc Finger E-box-Binding Homeobox 1
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Topics |
- Chromosome Mapping
- Chromosomes, Human, Pair 20
- Corneal Dystrophies, Hereditary
(epidemiology, genetics, pathology)
- Endothelium, Corneal
(pathology)
- Genetic Linkage
- Genetic Testing
- Homeodomain Proteins
(genetics, metabolism)
- Humans
- Lod Score
- Pedigree
- Transcription Factors
(genetics, metabolism)
- Zinc Finger E-box-Binding Homeobox 1
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