Genetic fine mapping of the gene for recessive Stargardt disease | Zendy

Carel B. Hoyng | Zendy; Francis A.M. Poppelaars | Zendy; T.J.R. van de Pol | Zendy; Hannie Kremer | Zendy; A. Pinckers | Zendy; August F. Deutman | Zendy; F. P. M. Cremers | Zendy

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Genetic fine mapping of the gene for recessive Stargardt disease

Author(s) -

Carel B. Hoyng,

Francis A.M. Poppelaars,

T.J.R. van de Pol,

Hannie Kremer,

A. Pinckers,

August F. Deutman,

F. P. M. Cremers

Publication year - 1996

Publication title -

human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.351

H-Index - 137

eISSN - 1432-1203

pISSN - 0340-6717

DOI - 10.1007/s004390050247

Subject(s) - biology , genetics , stargardt disease , genetic linkage , allele , haplotype , gene , locus (genetics) , human genetics , gene mapping , chromosome

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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