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Copyright of Revista Gastrohnup is the property of Universidad del Valle and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Gastrohnup is the property of Universidad del Valle and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Virulence factors of Helicobacter pylori can predict the development of different gastroduodenal diseases. There are scarce reports in Cuba about H. pylori isolates genotyping. The aim of the present investigation was to identify allelic variation of the virulence genes vacA, cagA, and iceA in sixty-eight patients diagnosed as H. pylori positive by culture. In seven out of 68 patients, strains from both gastric regions were obtained and considered independent. DNA was extracted from all the H. pylori strains and evaluated by PCR-genotyping. The vacA s1 allele, cagA gene, and iceA2 allele were the most prevalent (72.0%, 56.0%, and 57.3%, respectively). Alleles from m-region showed a similar frequency as s1a and s1b subtypes. The presence of multiple H. pylori genotypes in a single biopsy and two gastric region specimens were found. Significant statistical association was observed between iceA2 allele and patients with non-peptic ulcer dyspepsia (NUD) (P=0.037) as well as virulence genotypes (s1, s1m2) and patients over 40 years old (P<0.05). In conclusion, the results demonstrated a high prevalence of H. pylori virulent genotypes in Cuban patients over 40 years old while iceA2 alleles demonstrated a good specificity in patients with NUD. [ABSTRACT FROM AUTHOR]

Wilson's disease is a hereditary disorder of autosomal recessive inheritance that can cause irreversible, potentially lethal lesions to liver and brain. Its molecular cause is the appearance of mutations in the atp7b gene. A total of 379 different disease-producing mutations are currently known, turning the molecular diagnosis of this disorder into a formidable challenge. The present study used single-strand conformational polymorphism for the detection of conformational changes in exon 8 of this gene. Two shifts distinct from the normal allele, denominated b and c, were detected and mapped to mutations L708P and 2304DupC in heterozygosis. Allelic frequencies for these mutations in 72 Cuban Wilson's disease patients were 2 and 0.7%, respectively. [ABSTRACT FROM AUTHOR]

La enfermedad de Wilson es un trastorno hereditario que se transmite con un patrón de herencia autosómico recesivo. Puede provocar lesiones irreversibles en el hígado y el cerebro, que pueden llevar a la muerte. Su causa molecular son las mutaciones en el gen atp7b con 379 variantes promotoras de la enfermedad. El diagnóstico molecular es complejo. En este estudio se empleó la técnica de polimorfismo conformacional de simple cadena para la determinación de cambios conformacionales en el exón 8 de ese gen. Se detectaron dos cambios distintos de la variante normal, denominados: b y c, los cuales correspondieron a las mutaciones L708P y 2304DupC en estado heterocigótico, respectivamente. Las frecuencias alélicas de tales mutaciones en 72 pacientes cubanos con la enfermedad de Wilson son de 2 y 0.7%, respectivamente. [ABSTRACT FROM AUTHOR]