Molecular Analysis of Japanese # { 246 } fl - Thalassemia

نویسندگان

  • Satoshi Shiokawa
  • Hideo Yamada
  • Yoshihiro Takihara
  • Eiji Matsunaga
  • Yuzo Ohba
  • Kiyomi Yamamoto
  • Yasuyuki Fukumaki
چکیده

A DNA fragment containing the deletion junction region from a Japanese individual with homozygous #{246} 8-thalassemia has been cloned. A clone containing the normal DNA surrounding the 3’ breakpoint of this deletion and a clone carrying the G’yand ky-globin genes of this patient were also isolated. Sequences of the deletion junction and both ‘y-globin genes were determined. A comparison of these sequences with previously determined sequences of the normal counterparts revealed that the 5’ breakpoint is located between 2,134 and 2,137 base pairs (bp) 3’ to the polyA site of the A’y-globin gene, the 5’ breakpoint is located just downstream of the 3’ border of the fetal y-globin duplication unit, and no molecular defects are evident within the y-globin gene region. A comparison between the sequences of the normal DNA surrounding

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تاریخ انتشار 2005