A novel mutation in the TATA box in a Japanese patient with beta +-thalassemia.

نویسندگان

  • Y Takihara
  • T Nakamura
  • H Yamada
  • Y Takagi
  • Y Fukumaki
چکیده

A single base substitution (A-G) at position -31 within the highly conserved proximal promoter element, the TATA box, was identified in the beta-globin gene cloned from a Japanese woman with beta +-thalassemia. It appears that she is homozygous for this specific allele, as determined by haplotype analysis using seven different polymorphic sites in the beta-globin gene cluster. Transient expression of the mutant gene in COS cells revealed a 45% reduction in beta-globin RNA production, relative to normal. These results establish the functional significance of the second base of the TATA box for in vivo transcription of the human beta-globin gene.

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عنوان ژورنال:
  • Blood

دوره 67 2  شماره 

صفحات  -

تاریخ انتشار 1986