Abstract
Disseminated superficial actinic porokeratosis is an autosomal dominant cutaneous disorder characterized by many uniformly small, minimal, annular, anhidrotic, and keratotic lesions. The genetic basis for this disease is unknown. Using a genomewide search in a large Chinese family, we identified a locus at chromosome 12q23.2-24.1 responsible for disseminated superficial actinic porokeratosis. The fine mapping study indicates that the disseminated superficial actinic porokeratosis gene is located within a 9.6 cM region between markers D12S1727 and D12S1605, with a maximum two-point LOD score of 20.53 (θ=0.00) at D12S78. This is the first locus identified for a genetic disease where the major phenotype is porokeratosis. The study provides a map location for isolation of a gene causing disseminated superficial actinic porokeratosis.
Original language | English (US) |
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Pages (from-to) | 1071-1074 |
Number of pages | 4 |
Journal | Journal of Investigative Dermatology |
Volume | 114 |
Issue number | 6 |
DOIs | |
State | Published - 2000 |
Funding
We are grateful to the family members who participated in this study. We would like to express our thanks to Xiangya Hospital and the Second Affiliated Hospital, Hunan Medical University, for their support. This study was supported by the ‘863' Program (code number: Z19010201, Z19–02–02–02), ‘973' Program (code number: G1998051002) and NSFC (Project 39230220(2)).
Keywords
- Disseminated superficial actinic porokeratosis
- Gene mapping
- Genomewide scan
- Linkage analysis
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Dermatology
- Cell Biology