Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level

Hum Genet. 1990 Mar;84(4):365-7. doi: 10.1007/BF00196236.


Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to be a C----G substitution in codon 108; this eliminates a MaeII restriction site.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA / genetics*
  • Globins / genetics
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction


  • Hemoglobins, Abnormal
  • hemoglobin Presbyterian
  • Globins
  • DNA
  • hemoglobin D Punjab