A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA.

نویسندگان

  • R Spiegelberg
  • C Aulehla-Scholz
  • H Erlich
  • J Horst
چکیده

The base composition around a recently detected deletion in the human beta-globin gene was determined by direct DNA sequencing of an enzymatically amplified DNA segment. The deletion removes 290 base pairs (bp), including the entire exon 1 and the mRNA cap site. In the vicinity of the deletion endpoints, the normal beta-globin gene contains direct and inverted repeats which may have taken part in generation of this deletion.

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عنوان ژورنال:
  • Blood

دوره 73 6  شماره 

صفحات  -

تاریخ انتشار 1989