A Novel Mutation in the TATA Box in a Japanese Patient With fl-Thalassemia

نویسندگان

  • Yoshihiro Takihara
  • Takanori Nakamura
  • Hideo Yamada
  • Yasuyuki Takagi
  • Yasuyuki 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 fi-globin gene cloned from a Japanese woman with fl -thalassemia. It appears that she is homozygous for this specific allele, as determined by haplotype analysis using seven different polymorphic sites in the fl-globin gene cluster. Transient expression of the

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تاریخ انتشار 2005