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Biomedical subjects

D Barker

Publications and source records attributed to D Barker.

At least 163 records · Page 9Linked to original sources

A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.

Although cystic fibrosis (CF) is among the most common inherited diseases in Caucasian populations, the basic biochemical defect is not yet known. CF is inherited as an autosomal recessive trait apparently due to mutations in a single gene, whence the efforts made to identify the genetic locus responsible by linkage studies. Two markers have recently been identified that are genetically linked to CF: one is a genetic variation in serum level of activity of the enzyme paraoxonase, and the other is a restriction fragment length polymorphism (RFLP) identified with a randomly isolated DNA probe. We report here that the genetic locus DOCRI-917 defined by the cloned DNA probe is located on chromosome 7.

Chromosome Mapping↗

Acidic ribosomal proteins and histone H3 from Leishmania present a high rate of divergence.

Another additional peculiarity in Leishmania will be discussed about of the amino acid divergence rate of three structural proteins: acidic ribosomal P1 and P2b proteins, and histone H3 by using multiple sequence alignment and dendrograms. These structural proteins present a high rate of divergence regarding to their homologous protein in Trypanosoma cruzi. At this regard, L. (V.) peruviana P1 and T. cruzi P1 showed 57.4% of divergence rate. Likewise, L. (V.) braziliensis histone H3 and acidic ribosomal P2 protein exhibited 31.8% and 41.7% respectively of rate of divergence in comparison with their homologous in T. cruzi.

Amino Acids↗

Dental findings in Morquio syndrome (mucopolysaccharidoses type IVa).

Morquio syndrome is a disorder of mucopolysaccharide metabolism with specific skeletal features. The clinical and radiographic appearance of the teeth resembles hypoplastic amelogenesis imperfecta with thin enamel of normal radiodensity. The dental practitioner has a part to play in collaboration with medical colleagues in the recognition and diagnosis of this condition.

Amelogenesis Imperfecta↗