Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site.

During a systematic screening of Algerian thalassemics by determining the DNA polymorphism haplotypes in the beta globin gene cluster, a novel haplotype was identified. The DNA of a homozygous individual was cloned and sequenced. The mutation, a G----A change, at position 5 of the small intervening sequence, probably interferes with normal splicing events, and, moreover, creates a new Eco RV restriction site that provides a useful diagnostic tool for detecting this condition.

• Publication year

  1986

• Venue

  Biochemical and Biophysical Research Communications - BBRC

• Publication date

  1986-09-16

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/S0006-291X(86)80048-1PMID 3021139
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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