| Summary: | 碩士 === 國立陽明大學 === 遺傳學研究所 === 90 === Psoriasis is a chronic skin disorder occurring in 1%~2% of dermatosis cases. There is no difference between male and female for the frequency of psoriasis. Characteristic features include epidermal keratinocyte hyperproliferation, altered epidermal maturation, vascular proliferation, and inflammatory cell accumulation. Whereas the pathogenesis of psoriasis remains uncertain, some evidence suggest that multiple factors, including environmental stress, virus, microbe, autoimmune system can cause psoriasis synergistically. Although the genetic component of psoriasis is still unknown, modern genetic analysis suggest the transmission of psoriasis is affected by genetic factors.
Previous studies suggest that the psoriasis and genetic factors are highly correlated. The psoriasis candidate loci have been narrowed down by applying improve on genetic assay methods. One of the candidate locus contains immune gene cluster, called HLA-C cluster or PSOR1, which locates on the chromosome 6p. This locus is one of the highly polymorphic gene clusters ever known. Recent studies indicate that one of the PSOR1 genes, called HCR, correlates with the pathogenesis of psoriasis. The distribution of single nucleotide polymorphisms (SNP) in HCR will affect the frequency of psoriasis. Using the genomic DNA sequencing and dHPLC, screen of the SNPs in HCR gene of Taiwanese patients with psoriasis. By the case-control study we find some significant SNPs have higher allele frequency in patients than in healthy controls. Furthermore, some SNPs alter the amino acid sequence of the HCR protein. Wishing genetic epidemiology and functional studies, these SNPs will provide some clues to understanding the pathogeny of psoriasis.
The other purpose in our research is to establish a SNP database of pathogenic genes in Taiwanese patients. At the beginning, data of SNPs in HCR genes isused to generate the prototype of this database. We create a lot of functional modules to fit the requirement of personal medical care and other practical applications.
In the future, expansion and improvement of the database is necessary increase to a capacity for more and more SNPs discovery. Combination of the wet-bench experiences and bioinformatics techniques, we give an example for large-scale SNP data analysis and friendly query system for the research of pathogenic SNP screen.
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