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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Hoyng CB,Poppelaars F,van de Pol TJ,Kremer H,Pinckers AJ,Deutman AF,Cremers FPdoi
10.1007/s004390050247subject
Has Abstractpub_date
1996-10-01 00:00:00pages
500-4issue
4eissn
0340-6717issn
1432-1203journal_volume
98pub_type
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