科研之友
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摘要
We have identified a deletion of 125bp (-(125)) (NG_000006.1: g.37040_37164del) in the -globin gene cluster in a Kabyle population. A combination of singlex and multiplex polymerase chain reaction (PCR)-based assays have been used to identify the molecular defect. Sequencing of the abnormal PCR amplification product revealed a novel 1-globin promoter deletion. The endpoints of the deletion were characterized by sequencing the deletion junctions of the mutated allele. The observed deletion was located 378bp upstream of the 1-globin gene transcription initiation site and leaves the 2 gene intact. In some patients, the -(125) deletion was shown to segregate with Hb S (HBB: c.20A>T) and/or Hb C (HBB: c.19G>A) or a -thalassemic allele. The -(125) deletion has no discernible effect on red cell indices when inherited with no other abnormal globin genes. The family study demonstrated that the deletion is heritable. This is the only example of an intergenic 2-1 non coding DNA deletion, leaving the 2-globin gene and the 1 coding part intact.
- 出版日期2016-3-3
