SULM – Schweizerische Union für Labormedizin | Union Suisse de Médecine de Laboratoire | Swiss Union of Laboratory Medicine

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M Hergersberg 1 , L Bernasconi, C Ruegg1 , KK Seitkamalovna 2 , E Ginter, S Tverskaya, A Polyakov 3 , E Tarutta, G Markossian, O Panteleeva4 , B Ward5 , GM Sarra6 , G Svyatova 7 , A Huber1

1Zentrum für Labormedizin, Kantonsspital Aarau, 5001 Aarau, 2Department of Pediatric Ophthalmology, Research Centre of Ophthalmological Diseases, Almaty, Kazakhstan, 3Research Center of Medical Genetics, Institute of Clinical Genetics, Russian Academy of Medical Sciences, Moscow, Russia, 4Helmholtz Research Institute for Eye Diseases, Moscow, Russia, 5Retinal Diagnostic Center, Campbell, California, USA, 6University Eye Clinic, Inselspital, Bern, 7Laboratory of Medical Genetics, Republican Centre of Mother and Child Health Protection, Almaty, Kazakhstan

BACKGROUND: There is evidence for a strong inherited contribution to the pathogenesis of high myopia, but no susceptibility genes are known. Recently, a chromosomal region containing a candidate gene encoding fibulin-1 (FBLN1) has been localized in a family with four (of eight) children with early-onset high myopia developing into a vitreoretinal dystrophy later in life. Fibulin-1 is a component of the extracellular matrix, it is expressed in many tissues including the sclera, and it is an interesting candidate gene for high myopia susceptibility. PROBANDS AND METHODS: The FBLN1 gene was analyzed by denaturing HPLC and by sequence analysis in the DNA of affected and unaffected members of the family, and in the DNA from 21 probands with high myopia from Kazaksthan. A real-time RT-PCR assay verifies the presence of FBLN1 transcripts in the RNA of peripheral lymphocytes and will be applied for quantitation of FBLN1 transcripts in patients with high myopia. RESULTS: A 10 centiMorgan region on chromosome 22 was homozygous for the microsatellite alleles in the four affected siblings. Molecular analysis of FBLN1 did not identify a mutation in this family. Mutation and expression analysis of FBLN1 in the DNA of high myopia probands is in progress. CONCLUSIONS: It is reasonable that the hypothetical polymorphisms resulting in myopia susceptibility are difficult to find. A combination of mutation and expression analysis is a reasonable strategy to test the hypothesis that changes in FBLN1 gene activity contribute to susceptibility for high myopia.


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