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Biomedical subjects

M Yagi

Publications and source records attributed to M Yagi.

At least 271 records · Page 15Linked to original sources

G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.

The sequence 5'TTGGPyCAAT 3' (the 'CCAAT box') is a constituent of the promoter region of many eukaryotic and prokaryotic genes and is believed to play a part in promoter function. A characteristic of the two fetal human globin genes (A gamma and G gamma) is a duplication of a 12-base pair (bp) sequence containing the CCAAT box. Here we report a G----A substitution in the TTG sequence of the distal CCAAT box of the A gamma-globin gene in an individual with the A gamma (Greek) type of hereditary persistence of fetal haemoglobin (HPFH). This represents the first report of a natural mutation of the CCAAT box in a eukaryotic gene. The fact that this transition is associated with inappropriate expression of the A gamma gene in adult life suggests that the CCAAT box (or its surrounding sequences) may have a role in the developmental control of gamma-globin genes.

Base Sequence↗

Primary tuberculosis of the nasopharynx with erythema induratum of Bazin.

A 44-year-old Japanese woman with primary tuberculosis of the nasopharynx associated with erythema induratum of Bazin (EI) is reported. The patient presented with erythematous nodules of the lower legs diagnosed as EI. Since EI is a tuberculosis-related skin disease, the presence of latent tuberculous lesions was investigated, and a tuberculous lesion was found in the nasopharynx. Primary tuberculosis of the nasopharynx is very rare. Furthermore, our review of the literature revealed no case in which nasopharyngeal tuberculosis acted as the latent focus of EI.

Adult↗