RESUMO
It is generally accepted that Raman spectroscopy is an advanced method with simple operation, small amount of specimens needed as well as rapid on-line screening, detection and identification. However, in the technology of determination, sample preparation is also an significant factor during analysis process. It would affect the accuracy and precision of the results, and normally involved complicated procedure. Developing a rapid and effective sample preparation method coupled with Raman detective technology is a method worth study. In the present paper, the simply basic principle, the origin and development of generating Raman spectra were introduced, some Raman technology, such as the surface-enhanced Raman spectroscopy, tip-enhanced Raman spectroscopy, shell-isolated nanoparticle enhanced Raman spectroscopy and the sample preparation were discussed.
Assuntos
Manejo de Espécimes/métodos , Análise Espectral Raman/métodosRESUMO
Several studies have suggested that the transcriptional activity of the DRD4 gene may exert an important role in susceptibility to schizophrenia. To address this issue, we studied the association of schizophrenia and polymorphisms including -616C>G, -603T>del, -602G>del, 600G>C, -521C>T, -376C>T and a 120 bp tandem duplication polymorphism (120 bp repeat) in 1.2 kb upstream from the initiation codon in the promoter region of the DRD4 gene with 210 schizophrenic cases and 206 healthy controls. The results showed a significant excess of allele L of the 120 bp repeat in the schizophrenic patients compared to the controls (X(2)=8.585, df=1, P=0.003, OR=1.546, 95% CI=1.154-2.070). No significant difference was detected in the frequencies of genotype and allele of six other polymorphisms between the two groups. However, haplotypic distribution of 120 bp repeat, -616C>G, -602G>del, -521C>T and -376C>T was significantly different between case and control groups (P=0.005). This might cause the alteration of the transcriptional regulation of the DRD4 gene, as the consensus sequences of binding sites for several known transcription factors are involved in this region.
Assuntos
Polimorfismo Genético/genética , Receptores de Dopamina D2/genética , Esquizofrenia/genética , Psicologia do Esquizofrênico , Adulto , China , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Genótipo , Haplótipos/genética , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Pol1 do Complexo de Iniciação de Transcrição/genética , Regiões Promotoras Genéticas/genética , Receptores de Dopamina D4 , Esquizofrenia/diagnóstico , Sequências de Repetição em Tandem/genética , Transcrição Gênica/genéticaRESUMO
Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on extremities and face. The gene, or even its chromosomal location, for DSH has not yet been identified. In this study, two Chinese families with DSH were identified and subjected to a genomewide screen for linkage analysis. Two-point linkage analysis for pedigree A (maximum LOD score [Z(max)] = 7.28 at recombination fraction [theta] = 0.00) and pedigree B (Z(max) = 2.41 at theta = 0.00) mapped the locus for DSH in the two families to chromosome 6q. Subsequent multipoint analysis of the two families also provided additional support for the DSH gene being located within the region 6q24.2-q25.2, with Z(max) = 10.64. Haplotype analysis confined the locus within an interval of 10.2 Mbp, flanked by markers D6S1703 and D6S1708. The two families had no identical haplotype within the defined region, which suggests that the two families were different in origin. Further work on identification of the gene for DSH will open new avenues to exploration of the genetics of pigmentation.