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[Refinement of DSAP1 locus and mutation detection for candidate genes].
Zheng-Hu Zhang1, Zhen-Min Niu, Wen-Tao Yuan
1Chinese National Human Genome Center at Shanghai and Health Science Center, SIBS, CAS and SSMU, Shanghai 201203, China.
Yi Chuan Xue Bao = Acta Genetica Sinica
|August 5, 2005
Summary
This study investigated the genetic basis of Disseminated Superficial Actinic Porokeratosis (DSAP). Genome-wide scans and linkage analysis narrowed the critical region for DSAP genes, but no mutations were found in candidate genes.
Area of Science:
- Genetics
- Dermatology
- Molecular Biology
Background:
- Disseminated superficial actinic porokeratosis (DSAP) is a rare, inherited skin disorder.
- Previous research mapped potential DSAP disease genes to chromosomal regions 12q23.2-24.1 (DSAP1) and 15q25.1-26.1 (DSAP2).
Purpose of the Study:
- To perform a genome-wide scan in DSAP pedigrees to identify candidate genes.
- To localize the genetic region responsible for DSAP.
Main Methods:
- Genome-wide scan and linkage analysis in two large DSAP pedigrees.
- Haplotype analysis to define a critical genetic region.
- DNA sequencing of candidate genes within the critical region.
Main Results:
- Linkage analysis identified a cumulative maximum two-point lod score of 8.28 with marker D12S84.
- Haplotype analysis defined an 8.0 cM critical region on chromosome 12q24.1-q24.2.
- No mutations were detected in six candidate genes (CRY1, PWP1, ASCL4, PRDM4, KIAA0789, CMKLR1) within the critical region.
Conclusions:
- The identified critical region partially overlaps with the DSAP1 region.
- The investigated candidate genes are unlikely to be involved in DSAP pathogenesis.
- Further research is needed to identify the causative gene(s) for DSAP.