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Thread: Evidence that a Locus for Familial High Myopia Maps to Chromosome 18p

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    Exclamation Evidence that a Locus for Familial High Myopia Maps to Chromosome 18p

    Am J Hum Genet. 1998 Jul;63(1):109-19.


    Evidence that a locus for familial high myopia maps to chromosome 18p.

    Young TL, Ronan SM, Drahozal LA, Wildenberg SC, Alvear AB, Oetting WS, Atwood LD, Wilkin DJ, King RA.

    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.

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    Senior Member Arundel's Avatar
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    I am glad you posted the article on myopia, which I have. Mine was discovered when I was 9 years old. I had two brothers & a sister, and they did not have the problem, nor did my mother or dad. But I have heard the family talk about my grandfather's poor site, etc., so I probably inherited the bad gene from him. Although I can't see across the room to read a clock or see television, I read and write and do a lot of research on my computer, without using glasses. So I have gotten along pretty well with it. I had one son, but he didn't inherit it from me.

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