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Chinese Journal of Medical Genetics ; (6): 574-578, 2004.
Artigo em Chinês | WPRIM | ID: wpr-321192

RESUMO

<p><b>OBJECTIVE</b>To study the genetic pathogenesis of myasthenia gravis (MG) caused by cytotoxic T lymphocyte associated antigen-4 (CTLA-4) gene polymorphisms and regulation function of transcription factor.</p><p><b>METHODS</b>ELISA assay was used to determine the expression level of serum sCTLA-4 in MG. Four single nucleotide polymorphisms (SNPs) of CTLA-4 at exon 1 +49, promoter -318, -1661, -1772 were analyzed by restriction fragment length polymorphism (RFLP). Transcription factor nuclear factor 1(NF-1) and c/EBPbeta binding site were confirmed by chromatin immunoprecipitation(CHIP) assay.</p><p><b>RESULTS</b>It was found that the frequencies of the GG+49 genotype and G+49 allele are higher in MG patients with thymoma than those in patients of thymic hyperplasia and normal thymus subgroups. T/C-318 is not correlated with MG. The frequency of CT-1772 genotype is significantly higher in MG patients, especially in MG patients with thymoma, when compared with that in healthy controls. Meanwhile, the frequency of the G-1661 allele and GG-1661 genotype is lower in MG patients. Linkage disequilibrium (LD) between each SNPs in promoter -1772, -1661, -318 and coding sequence 1 (CDS 1) +49 is apparent. sCTLA-4 levels in patients' sera are correlated with the haplotype and genotype. T/C-1772 and A/G-1661 SNPs change the sequence of transcription factor NF-1 and c/EBPbeta binding sites. DNA variants lose site-specific binding activity of transcription factor regulated by lectin ConA and PHA.</p><p><b>CONCLUSION</b>There are strong positive linkages among four SNPs. C/T-1772 and A/G-1661 polymorphisms can result in inefficient transcription of CTLA-4 gene. T>C-1772 mutation also affects gene splicing. These SNPs may constitute a factor of susceptibility to disease.</p>


Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Antígenos CD , Antígenos de Diferenciação , Sangue , Genética , Proteína beta Intensificadora de Ligação a CCAAT , Genética , Proteínas Estimuladoras de Ligação a CCAAT , Genética , Antígeno CTLA-4 , Éxons , Frequência do Gene , Genótipo , Miastenia Gravis , Genética , Alergia e Imunologia , Fatores de Transcrição NFI , Mutação Puntual , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Timoma , Genética , Hiperplasia do Timo , Genética , Neoplasias do Timo , Genética , Fatores de Transcrição , Genética
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