Locus assignment of human α-globin structural mutants by selective enzymatic amplification of α1 and α2-globin cDNAs

Avgi Mamalaki, Margrit Horanyi, Judith Szelenyi, Nicholas K. Moschonas

Research output: Article

1 Citation (Scopus)

Abstract

We have used the powerful methodology of DNA enzymatic amplification in order to assign human α-globin structural mutants to one of the two highly homologous α-globin genes. Selectively amplified α1 and α2-globin cDNAs were dot-blotted and further hybridized to synthetic oligonucleotides encompassing either the normal or the mutated sequences. The generated signals corresponded specifically to one of the two α-globin genes. Using this approach the α-globin structural mutants J-Buda and G-Pest were found to be encoded by the α2 and the α1-globin genes, respectively. Furthermore, the exact nucleotide changes were determined. We propose this technique to serve as a simple and definitive method for assigning α-globin structural mutants.

Original languageEnglish
Pages (from-to)509-512
Number of pages4
JournalHuman genetics
Volume85
Issue number5
DOIs
Publication statusPublished - okt. 1 1990

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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