Three Kinds Of Genetic Diseases, Genetic Analysis And Unk Gene Expression Analysis In Gastric Cancer

Genetic studies have been performed on the hereditary diseases of disseminated superficial actinic porokeratosis (DSAP), familial progressive hyperpigmentation (FPH) and triphalangeal thumb-polysyndactyly syndrome (TPT-PS) by linkage analysis and sequencing. By using RT-PCR and sequencing, analyses of UNK gene expression have been made in gastric carcinoma.Hereditary porokeratosis is a disease of dominant autosomal heredity. The histopathologic characteristics is epidermic keratosis and comoid lamellae. DSAP, as one of the most common subtype, presents small and superficial lesions on sun-exposure parts, while the hereditary mechanism remains unknown. Three DSAP Chinese families of Han nationality were enrolled into this study. Through genotyping, linkage analysis and haplotype analysis, the disease gene of DSAP was localized to chromosome 12q23.3, with a region of 4.37cM between D12S1683 and D12S1344. Consulting to other related studies we focus the region from 9.6cM to 1.5cM between D12S1683 and D12S1605, approximately 30 genes have been reported in this location. Through sequence analysis, more than 20 genes were excluded in the study, among which CRY1, CKAP4, PRDM4, CMKLR1 were once considered as important candidate genes. Meanwhile the reported SSH1 gene and SART3 gene in 12q24.1-24.2 were also excluded. Further more, a point mutation of G→G/A was found in all affected individuals of DSAP family 2.FPH is a rare form of congenital genetic disorder of humans accounting for an independent special hyperpigmentation. The genetic basis for this disease remains unknown. Using a genome-wide scan in a Chinese family of Han nationality, we found a locus at chromosome A responsible for FPH. The fine mapping study indicates that the FPH gene is located within a 9.1 cM region, which is the first locus identified for FPH. This study provides a map location for isolation of the gene causing FPH.TPT-PS is an autosomal hereditary disease presents isolated congenital limb malformation of humans characterized by triplication of triphalangeal thumb, webbing between fingers associated with bony synostosis. Through genotyping, linkage analysis and haplotype analysis of a Chinese TPT-PS family, the disease gene of TPT-PS was localized to chromosome 7q36, shrunk to a region of 1.7cM between D7S2465 and D7S2423. By the means of sequence analysis, SHH, C7orf2, RNF32, C7orf3 and HXLB9 were excluded. Further more, a point mutation of C→C/T was found in all affected individuals of the TPT-PS family.Gastric carcinoma is a kind of common malignancy. By using RT-PCR and sequencing, expression of UNK gene were analyzed in 65 gastric carcinoma specimens. The expression level of transcript 2 is much lower than that of transcript 1 in UNK gene. However, no corresponding relations have been found between such variation and genomic DNA sequence. This phenomenon might be suggested by the disorder of splicing mechanism of cancer cells.