Abstract
Stargardt disease (STGD) is one of the most frequent causes of macular degeneration in childhood. Linkage analysis in families with recessive STGD has recently shown genetic homogeneity and a location of the underlying gene at 1p22-p21 in a 4-cM interval. Haplotype analysis in seven Dutch STGD families with 11 highly polymorphic markers spanning the critical region has enabled us to refine the location of the underlying gene to a 2-cM region flanked by the loci D1S406 and D1S236. We have identified one 45-year-old nonpenetrant individual who carries two disease alleles. In another family, an affected individual inherited the paternal but not the maternal disease chromosome, suggesting genetic heterogeneity or a different mechanism leading to the disease in this family.
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Received: 14 February 1996 / Revised: 25 April 1996
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Hoyng, C., Poppelaars, F., van de Pol, T. et al. Genetic fine mapping of the gene for recessive Stargardt disease. Hum Genet 98, 500–504 (1996). https://doi.org/10.1007/s004390050247
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DOI: https://doi.org/10.1007/s004390050247