Same genotype and different phenotypes in a family with PRKAG2 gene mutation / 中华心血管病杂志

<p><b>OBJECTIVE</b>The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation.</p><p><b>METHOD</b>Direct DNA sequence was performed to screen the exons and exon-intron boundaries of PRKAG2 gene in a large family with 13 affected persons detected by electrocardiography (ECG).</p><p><b>RESULTS</b>Sinus bradycardia, short PR interval, right bundle bunch block (RBBB), complete AV block, atrial flutter, atrial fibrillation and sudden cardiac death were identified in this family. Hypertrophic cardiomyopathy was found in one family member. Genetic analysis revealed a missense mutation (Arg302Glu) in all affected family members. This mutation was previous described in patients with Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy.</p><p><b>CONCLUSIONS</b>Besides WPW syndrome and hypertrophic cardiomyopathy, PRKAG2 mutations are responsible also for a diverse phenotypes. PRKAG2 gene mutation should be suspected with familial occurrence of RBBB, sinus bradycardia, and short PR interval.</p>

Identificação e concentração das antocianinas durante a ontogenia foliar de Hevea brasiliensis Muell. Arg. (IAN 873) e H. pauciflora Muell. Arg. submetidas a dois regimes hídricos

Pigments of rubber tree leaves were identified by means of descending paper chromatography, using three solvent systems. Analysis of the chromatograms and Rf values indicated the presence of two anthocyanins, pelargonidin and cyanidin. A yellow spot, with Rf value greater than 0.90, was probably kaempferol.The anthocyanin level was influenced in rubber tree seedlings subjected to water stress, showing a drastic reduction in the first ten days of leaf ontogeny. Leaves older than 20 days showed no significant difference under diferent water stress treatments. Clone IAN 873 progeny more strongly affected by water stress than that of H. pauciflora.

Através de cromatografia descendente em papel, com a utilização de três sistemas de solventes, indentificaram-se os pigmentos presentes nas folhas de seringueira. Por meio das análises dos cromatogramas e dos RF encontrados, verificou-se a presença de duas antocianinas, a pelargonidina e a cianidina. Foi observada a presença de uma mancha amarela, com RF acima de 0,90, provavelmente o quempferol. O teor de antocianina foi influenciado pelo déficit hídrico em plântulas de serigueira, com drástica redução nos primeiros dez dias de antogenia foliar. Após o vigésimo dia de idade, não houve diferença significativa entre os tratamentos. A progênie do clone IAN 873 de Hevea brasiliensis foi mais influenciada pela deficiência hídrica que a de H. pauciflora.