Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A recent outbreak of erythroderma in young children in an Albanian hospital was investigated. The etiology was not established, but Staphylococcus haemolyticus was frequently isolated from the affected children and from staff working in the same unit. Possible relationships among the isolates were investigated by using classical techniques (biotype, antimicrobial susceptibility, and extrachromosomal DNA pattern) and by restriction endonuclease analysis (REA) of total DNA. Control isolates of proven pathogenicity from hospitalized patients in Lyon, France were subjected to the same procedures. Distinct REA patterns were obtained after digestion with two enzymes in 7 of 10 isolates from five affected children. Six distinct patterns were observed in nine isolates from six staff members; two REA patterns from patient isolates and two from staff members were identical, and these were distinguishable by the other markers examined. Only two different REA patterns were found in the pathogenic control isolates despite the use of a third additional enzyme. Again, the isolates with the same REA patterns could be distinguished by their plasmid profile or antimicrobial resistance profile. REA of total DNA used in combination with other markers indicated that the Albanian isolates differed considerably, whereas the French pathogenic isolates showed little variability.
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PMID:Molecular epidemiology of Staphylococcus haemolyticus strains isolated in an Albanian hospital. 165 66

Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. It is clinically divided into 2 subtypes, lamellar ichthyosis (LI) and congenital ichthyosiformis erythroderma (CIE). We investigated forty-three ARCI Egyptian individuals in 16 severe LI, and 10 CIE families. We identified 5 alleles in two Egyptian families as having intron-5/exon-6 splice acceptor mutation recognized by the MspI restriction endonuclease. This promoted to a frequency of 9.6% for this mutation (5 splice-mutation alleles/52 alleles tested). We extended our previous dataset to update the detection of R142H mutation in 4 CIE Egyptian families and one LI phenotype (frequency of 28.8%; 15/52), whereas we still had no R141H among our Egyptian population. There was no correlation between phenotype and genotype in our study. Surprisingly, the mutant alleles detected in intron-5 acceptor splice-site were associated with the other extreme of CIE phenotypes rather than the severe LI form. We clearly demonstrated that the ARCI Egyptian families in Upper Egypt was ethnically pure and had a tendency not to be a hybrid with other populations in Lower Egypt, Delta zone and Cairo city.
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PMID:Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families. 1566 93