1. Refined genetic and physical mapping of BPES type II.
- Author
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Messiaen L, Leroy BP, De Bie S, De Pauw K, Van Roy N, Speleman F, Van Camp G, and De Paepe A
- Subjects
- Belgium, Blepharophimosis classification, Chromosome Banding, Chromosomes, Artificial, Yeast, Dinucleotide Repeats genetics, Female, Genetic Markers, Humans, In Situ Hybridization, Fluorescence, Lod Score, Male, Microsatellite Repeats, Retinol-Binding Proteins genetics, Syndrome, Blepharophimosis genetics, Chromosomes, Human, Pair 3
- Abstract
BPES is a genetic disorder including blepharophimosis, ptosis of the eyelids, epicanthus inversus and telecanthus. Type I is associated with female infertility, whereas type II presents without other symptoms. Both types I and II occur sporadically or are inherited as an autosomal dominant trait. We present a molecular genetic and cytogenetic study in a large four-generation Belgian family with BPES type II. Karyotype analysis on high-resolution banded chromosomes yielded normal results. Fluorescence in situ hybridization (FISH) with cosmid probes spanning 3q22-q24 revealed normal hybridization patterns. Sixteen polymorphic CA repeats encompassing region 3q13-q25 were analysed. Linkage analysis in this large four-generation family provides conclusive evidence for the presence of a BPES gene in this region. Two-point lod scores greater than 3.0 between the disease and the following markers were seen: D3S1589 (4.67), D3S1292 (3.52), D3S1290 (3.59) and D3S1549 (3.65). By FISH, D3S1290, D3S1292 and D3S1549 were assigned to chromosome 3q23 using YACs positive for these markers.
- Published
- 1996
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