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Genetic loci for pathological myopia are not associated with juvenile myopia. Am J Med Genet 2002 Nov 01;112(4):355-60

Date

10/12/2002

Pubmed ID

12376937

DOI

10.1002/ajmg.10683

Scopus ID

2-s2.0-0036837879 (requires institutional sign-in at Scopus site)   47 Citations

Abstract

The purpose of this study was to evaluate chromosomal regions previously linked to pathological myopia for linkage to juvenile myopia in a sample of myopic children and their families. Of 125 families with a myopic child participating in the Orinda longitudinal study of myopia, 53 submitted 221 buccal swab samples for genetic analysis. Myopia in proband children was defined as -0.75 D or more myopia in both meridians on cycloplegic autorefraction (1% tropicamide). Affected status in parents and siblings was obtained by survey. DNA was extracted from buccal mucosal cells, amplified by polymerase chain reaction (PCR), and then analyzed with seven markers for chromosome 12 and five markers for chromosome 18 in the regions previously associated with pathological myopia. LOD scores were not significant for any marker tested. The largest positive LOD score was 0.15 for GATA30F04. Model-free methods using a SimIBD approach suggested a possible linkage at one marker, GATA6H09 (P = 0.003), but these results were not supported by transmission disequilibrium test (TDT) analysis. The statistical power to detect LOD scores of > or =1.0, assuming homogeneity, was estimated at 93.2%. We found no confirmatory evidence of linkage between juvenile myopia and regions of chromosomes 12 and 18 previously associated with pathological myopia.

Author List

Mutti DO, Semina E, Marazita M, Cooper M, Murray JC, Zadnik K

Author

Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Child
Chromosome Mapping
Genetic Predisposition to Disease
Humans
Lod Score
Microsatellite Repeats
Models, Genetic
Myopia