RESUMO
The human orosomucoid 1 gene (ORM1) codes an alpha-1-acid glycoprotein that has been classified as an acute-phase reactive protein, and a major drug-binding serum component, as well as an immunomodulatory protein with genetic polymorphisms. Evaluation of ORM variation through isoelectric focusing and immunobloting has revealed a world-wide distribution of the ORM1 F and ORM1 S alleles. We evaluated and examined the genetic characteristicsof two Mexican populations that have different anthropological and cultural antecedents, examining two ORM1 genotypes (exon 1 - A/G (Gln20Arg) and exon 5 G/A (Val156Met)) in 145 individuals, using nested polymerase chain reaction, sequencing, and restrited fragment length polymorphism. Mexican Mestizos had higher frequencies of the exon 1 A allele (P = 0.020) and AA genotype(P = 0.018) and lower frequency of the G allele (P = 0.020) when compared to Teenek Amerindians. When we examined exon 5 G/A (Val156Met) polymorphisms, we found significantly higher frequencies of the G allele (P = 0.0007) and the GG genotype (P = 0.0003) in the Mexican Mestizo population. The Teenek population had a significantly higher frequency of the A allele than has been reported for Chinese and African (P < 0.05) populations, and the G/A genotype was more frequently found in this Mexican population than in Chinese, African and European populations (P < 0.05).
Assuntos
Humanos , Éxons/genética , Genética Populacional , Indígenas Norte-Americanos/genética , Orosomucoide/genética , Polimorfismo Genético , Alelos , DNA , Frequência do Gene , Variação Genética , México , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Análise de Sequência de DNA , Estatística como AssuntoRESUMO
Se realizo un estudio multicentrico en 41 pacientes con esclerosis sistemica progresiva (ESP) para definir la frecuencia e inmunoespecificidad de los anticuerpos antinucleares (AAN). Cuando se empleo rinon de raton y celulas humanas HEp-2 como sustratos, la prueba de inmunoflourescencia indirecta resulto positiva en el 27 y 47% de los casos respectivamente.Los anticuerpos tuvieron especificidad contra acidos nucleicos en el 20% cuando se utilizo como fuente de antigeno DNA sonicado, que contiene fragmentos de DNA nativo y desnaturalizado. Sin embargo, los anticuerpos a DNA nativo fueron negativos al usar el metodo de Chritidia luciliae. La reactividad a proteinas nucleares no histonas se encontro en un tercio de los casos con especificidad a RNPn y no hubo anticuerpos anti-Sm, SS-B ni otros.Los anticuerpos anti-uracilo se encontraron en el 15% de los enfermos y no se hallaron anticuerpos anti-centromero. El estudio de los AAN en la ESP debe realizarse en sustrato homologo.El perfil de autoanticuerpos tiene una especificidad limitada, predominando su reactividad a acidos nucleicos, poli-uracilo y proteinas acidicas no histonas que incluyen al RNPn y Scl-70