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Hotspot Region (hotspot + region)
Selected AbstractsAnalysis of Forensic SNPs in the Canine mtDNA HV1 Mutational Hotspot Region,JOURNAL OF FORENSIC SCIENCES, Issue 6 2008Danielle T. Baute M.S. Abstract:, A 60 bp sequence variation hotspot in the canine mitochondrial DNA hypervariable region 1 was evaluated for its use in forensic investigations. Nineteen haplotypes containing 18 single nucleotide polymorphisms were observed among laboratory-generated and GenBank-derived domestic dog sequences representing five regional localities in the U.S. Samples from the different localities were highly variable with the levels of intra-population variability being similar among the populations studied. AMOVA further confirmed that there was no significant genetic structuring of the populations. Assays using these haplotypes were robust, canid specific and portend a rapid method for correctly excluding individual dogs as noncontributors of forensic evidence. Species-specificity of the primers was confirmed by means of in-tube polymerase chain reaction of human and cat DNA and in-silico assessment of the genomes of several animal species. Breed-specific fragments were not detected among the common haplotypes but there is evidence that this assay may be capable of differentiating domestic dog, wolf, and coyote sequences. [source] A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of Epidermolysis Bullosa SimplexEXPERIMENTAL DERMATOLOGY, Issue 7 2009Paul E. Bowden Abstract:, A novel missense mutation (p.Thr198Ser) in the 1A helix of keratin 5 (K5) has been identified in a four-generation family with a history of the localized variant of epidermolysis bullosa simplex (EBS-loc), a genetic skin fragility disorder caused by K5 or K14 mutations. Genomic DNA was isolated from blood samples of patients and their healthy relatives, and all exons of the genes encoding K5 and K14 (KRT5 and KRT14) were amplified by PCR and directly sequenced. The identified mutation was confirmed by mismatch allele-specific (MM-AS)-PCR and restriction enzyme digestion with RsaI. K5 p.Thr198Ser lies at the C-terminal end of the 1A helical domain and is considered to be outside of the main mutation hotspot region. This is the first reported mutation to affect position 30 of the 1A helix (1A:T30S) in any of the 54 known keratins. [source] Down-regulation of ATBF1 is a major inactivating mechanism in hepatocellular carcinomaHISTOPATHOLOGY, Issue 5 2008C J Kim Aims:, ,-Fetoprotein (AFP) is frequently detected in hepatocellular carcinomas (HCCs) and AT motif binding factor 1 (ATBF1) down-regulates AFP gene expression in hepatic cells. The ATBF1 gene also inhibits cell growth and differentiation, and altered gene expression is associated with malignant transformation. The aim was to investigate the potential role of the ATBF1 gene in HCCs. Methods and results:, Somatic mutations, allelic loss and hypermethylation of the ATBF1 gene were analysed in 76 sporadic HCCs. The level of ATBF-1 mRNA expression was analysed using quantitative real-time reverse transcriptase-polymerase chain reaction. Genetic studies of the ATBF1 gene revealed absence of somatic mutation in the hotspot region and 15 (25%) of 60 informative cases showed allelic loss at the ATBF1 locus. Hypermethylation in the intron 1 region of the ATBF1 gene was detected in only one case. Interestingly, ATBF1 mRNA expression in HCCs was significantly reduced in 55 (72.4%) samples compared with the corresponding surrounding liver tissues. Reduced expression was not statistically associated with clinicopathological parameters including stage, histological grade, infective virus type, and serum ,-fetoprotein level. Conclusions:, The ATBF1 gene may contribute to the development of HCCs via transcriptional down-regulation of mRNA expression, but not by genetic or epigenetic alterations. [source] Deep-water Fan Systems and Petroleum Resources on the Northern Slope of the South China SeaACTA GEOLOGICA SINICA (ENGLISH EDITION), Issue 3 2004PANG Xiong Abstract, The shallow shelf delta/strand arenaceous-pelitic deposit region in the north of the Pearl River mouth basin, sitting on the northern continental shelf of the South China Sea, has already become an important oil production base in China. Recent researched has revealed that a great deal of deep-water fans of great petroleum potentiality exist on the Baiyun deep-water slope below the big paleo Pearl River and its large delta. Based on a mass of exploration wells and 2-D seismic data of the shallow shelf region, a interpretation of sequence stratigraphy confirmed the existence of deep-water fans. The cyclic falling of sea level, abundant detrital matter from the paleo Pearl River and the persistent geothermal subsidence in the Baiyun sag are the three prerequisites for the formation and development of deep-water fans. There are many in common between the deep-water shelf depositional system of the northern South China Sea and the exploration hotspots region on the two banks of the Atlantic. For example, both are located on passive continent margins, and persistent secular thermal subsidence and large paleo rivers have supplied abundant material sources and organic matter. More recently, the discovery of the big gas pool on the northern slope of the Baiyun sag confirms that the Lower Tertiary lacustrine facies in the Baiyun sag has a great potentiality of source rocks. The fans overlying the Lower Tertiary source rocks should become the main exploration areas for oil and gas resources. [source] | ||||||||||