RESUMO
The genetic background of congenital bilateral aplasia of vas deferens (CBAVD) was studied. Eight patients from Ukraine were enrolled in our study. In each case, the clinical diagnosis of CBAVD was confirmed by testicular biopsy. None of patients had other clinical features of CF except high level of sweet Cl. Individuals underwent genetic screening for mutations in CFTR gene. Genomic DNA from six individuals was analysed for the 9 mutations and from two patients for the 20 most common CF mutations in European population. In 3 patients, the mutation identified was delF508 and in 3 patients was found to have the R117H mutation (in all cases one mutation per individual only). Our results confirmed hypothesis that isolated CBAVD is incomplete (genital) form of cystic fibrosis.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Doenças dos Genitais Masculinos/genética , Mutação/genética , Ducto Deferente/anormalidades , Adulto , DNA/genética , DNA/isolamento & purificação , Primers do DNA , Éxons/genética , Doenças dos Genitais Masculinos/congênito , Heterozigoto , Humanos , Masculino , Reação em Cadeia da Polimerase/métodos , UcrâniaRESUMO
The amino acid sequence of Agrotis segetum Granulosis virus (AsGV) granulin and A. Segetum nuclear polyhedrosis virus (AsNPV) polyhedrin was determined by sequencing tryptic and chymotryptic peptides from reduced and carboxymethylated proteins and tryptic fragments of oxidized and maleylated granulin. The comparison of the established peptide structures with the primary structures of other occlusion body proteins from related baculoviruses was also used for the polypeptide chains' reconstruction. The polypeptide chains of AsGV granulin and AsNPV polyhedrin comprise 247 and 246 amino acid residues, respectively. The proteins possess a high percentage of homology in their primary structures (63%).
Assuntos
Baculoviridae/química , Corpos de Inclusão Viral/química , Mariposas/microbiologia , Sequência de Aminoácidos , Animais , Dados de Sequência Molecular , Proteínas de Matriz de Corpos de Inclusão , Fragmentos de Peptídeos/química , Homologia de Sequência do Ácido Nucleico , Proteínas Estruturais ViraisRESUMO
Using disc polyacrylamide gel electrophoresis, the molecular weights of polyhedral proteins of nuclear polyhedrosis viruses (NPV) of Porthetria dispar, Mamestra brassicae, and Aporia crataegi were found to be 28000 +/- 3000. It was shown that NPV polyhedra of Bombyx mori, Galleria mellonella, P. dispar, and M. brassicae contain a protease. During dissolution of the polyhedra at pH 10,5 this protease specifically cleaves the matrix protein into 2--5 fragments. The amino acid compositions of NPV polyhedral proteins of P. dispar, M. brassicae, A. crataegi, Hyphantria cunae were shown to be very similar. It was found that tyrosine is a C-terminal amino acid of NPV polyhedral proteins of P. dispar, M. brassicae, and A. crataegi.
