Genetic linkage for Darier disease (keratosis follicularis)
- Univ. of Toronto and Queen Street Mental Health Centre, Ontario (Canada); and others
Darier disease is an autosomal dominant skin disorder characterized by abnormal keratinocyte adhesion. Recent data have provided evidence for linkage of the Darier disease locus to 12q23-24.1 in British families. We have carried out linkage analysis using the 12q markers D12S58, D12S84, D12S79, D12S86, PLA2, and D12S63 in 6 Canadian families. Pairwise linkage analysis generated positive lod scores at all 6 markers at various recombination fractions, and each family showed positive lod scores with more than one marker. The peak lod score in the multipoint analysis (Z{sub max}) was 5.5 in the interval between markers D12S58 and D12S84. These positive lod scores in North American families of varied European ancestry confirm the location of the Darier disease gene, and suggest genetic homogeneity. The future identification and sequencing of the gene responsible for Darier disease should lead to improved understanding of the disease and of keratinocyte adhesion in general. 22 refs., 2 figs., 2 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 91126
- Journal Information:
- American Journal of Medical Genetics, Vol. 55, Issue 3; Other Information: PBD: 30 Jan 1995
- Country of Publication:
- United States
- Language:
- English
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Genetic and physical mapping in the Darier`s disease region at 12q23-q24.1
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