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Am J Hum Genet. 1998 July; 63(1): 109–119. | PMCID: PMC1377231 |
Evidence that a locus for familial high myopia maps to chromosome 18p. T L Young, S M Ronan, L A Drahozal, S C Wildenberg, A B Alvear, W S Oetting, L D Atwood, D J Wilkin, and R A King Department of Ophthalmology, University of Minnesota, Minneapolis, MN 55455, USA. young061@gold.tc.umn.edu Myopia, or nearsightedness, is the most common human eye disorder. A genomewide screen was conducted to map the gene(s) associated with high, early-onset, autosomal dominant myopia. Eight families that each included two or more individuals with >=-6.00 diopters (D) myopia, in two or more successive generations, were identified. Myopic individuals had no clinical evidence of connective-tissue abnormalities, and the average age at diagnosis of myopia was 6.8 years. The average spherical component refractive error for the affected individuals was -9.48 D. The families contained 82 individuals; of these, DNA was available for 71 (37 affected). Markers flanking or intragenic to the genes for Stickler syndrome types 1 and 2 (chromosomes 12q13.1-q13.3 and 6p21.3, respectively), Marfan syndrome (chromosome 15q21.1), and juvenile glaucoma (chromosome 1q21-q31) were also analyzed. No evidence of linkage was found for markers for the Stickler syndrome types 1 and 2, the Marfan syndrome, or the juvenile glaucoma loci. After a genomewide search, evidence of significant linkage was found on chromosome 18p. The maximum LOD score was 9.59, with marker D18S481, at a recombination fraction of .0010. Haplotype analysis further refined this myopia locus to a 7.6-cM interval between markers D18S59 and D18S1138 on 18p11.31. The Full Text of this article is available as a PDF (831K). These references are in PubMed. This may not be the complete list of references from this article. - Ashton GC. Segregation analysis of ocular refraction and myopia. Hum Hered. 1985;35(4):232–239. [PubMed]
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