RESUMEN
BACKGROUND AND METHODS: Numerous genetic studies have mapped asthma susceptibility genes to a region on chromosome 5q31-33 in several populations. This region contains a cluster of cytokines and other immune-related genes important in immune response. In the present study, to determine the genetic variations and patterns of linkage disequilibrium (LD), we resequenced all the exons and promoter regions of the 29 asthma candidate genes in the chromosome 5q31-33 region. RESULTS: We identified a total of 314 genetic variants, including 289 single nucleotide polymorphisms (SNPs), 22 insertion/deletion polymorphisms and 3 microsatellites. Standardized variance data for allele frequency revealed substantial differences in SNP allele frequencies among different ethnic groups. Interestingly, significant ethnic differences were observed mainly in intron SNPs. LD block analysis using 174 common SNPs with a frequency of >10% disclosed strong LD within most candidate genes. No significant LD was observed across genes, except for one LD block (CD14-IK block). Gene-based haplotype analyses showed that 1-5 haplotype-tagging SNPs may be used to define the six or fewer common haplotypes with a frequency of >5%, regardless of the number of SNPs. CONCLUSION: Overall, our results provide useful information for the identification of immune-mediated disease genes in the chromosome 5q31-33 region, as well as valuable evidence for gene-based haplotype analysis in disease association studies.
Asunto(s)
Asma/genética , Cromosomas Humanos Par 5/genética , Alelos , Asma/inmunología , Cromosomas Humanos Par 5/inmunología , ADN/química , ADN/genética , Variación Genética , Haplotipos/genética , Haplotipos/inmunología , Humanos , Corea (Geográfico) , Desequilibrio de Ligamiento , Polimorfismo Genético , Análisis de Regresión , Análisis de Secuencia de ADNRESUMEN
Qualitative and quantitative polymerase chain reaction (PCR) methods have been developed for the detection of genetically modified (GM) potatoes. The combination of specific primers for amplification of the promoter region of Cry3A gene, potato leafroll virus replicase gene, and potato virus Y coat protein gene allows to identify each line of NewLeaf, NewLeaf Y, and NewLeaf Plus GM potatoes. Multiplex PCR method was also established for the simple and rapid detection of the three lines of GM potato in a mixture sample. For further quantitative detection, the realtime PCR method has been developed. This method features the use of a standard plasmid as a reference molecule. Standard plasmid contains both a specific region of the transgene Cry3A and an endogenous UDP-glucose pyrophosphorylase gene of the potato. The test samples containing 0.5, 1, 3, and 5% GM potatoes were quantified by this method. At the 3.0% level of each line of GM potato, the relative standard deviations ranged from 6.0 to 19.6%. This result shows that the above PCR methods are applicable to detect GM potatoes quantitatively as well as qualitatively.
Asunto(s)
Toxinas Bacterianas , Plantas Modificadas Genéticamente/genética , Reacción en Cadena de la Polimerasa/métodos , Solanum tuberosum/genética , Toxinas de Bacillus thuringiensis , Proteínas Bacterianas/genética , Proteínas de la Cápside/genética , ADN de Plantas/análisis , Endotoxinas/genética , Proteínas Hemolisinas , Virus de Plantas/enzimología , Virus de Plantas/genética , Plantas Modificadas Genéticamente/clasificación , Potyvirus/genética , Regiones Promotoras Genéticas/genética , Sensibilidad y Especificidad , Solanum tuberosum/clasificaciónRESUMEN
Human chromosome translocation t(12;21)(p12;q22) is the most frequent chromosome rearrangement in childhood B-lineage acute lymphoblastic leukemia (ALL), and produces the TEL/AML1 fusion protein. The chimeric protein, TEL/AML1 contains the first 336 amino acids of TEL that is linked to residues 21-480 of AML1 and the fusion protein is generally known as a transcription repressor to the various target genes. Furthermore, TEL/AML1 has been shown to interfere with AML1-mediated transactivation on the CR1 gene. To understand the mechanism of the TEL/AML1-mediated repression, we used transient-transfection assay and immunofluorescence to monitor subcellular localization of TEL/AML1. Here, we show that TEL/AML1 is localized in the cytoplasm and the transcriptional activities of CR1 promoter are affected by the subcellular localization of TEL/AML1 fusion protein.