[D-category VII depends on amino acid substitution Leu(110)Pro]

Beitr Infusionsther Transfusionsmed. 1997:34:220-3.
[Article in German]

Abstract

A point mutation has been postulated as cause of the phenotype D category VII, based on data of 3 probands only. Repeatedly, D protein variants have been found to be due to heterogenous molecular events. Therefore, the aforementioned cause was to be tested with more probands. In a systematic study, 68 nonrelated probands with D category VII were found. 33 were selected by chance, and the nucleic acid region 280-329 was sequenced after PCR amplification. All examined probands showed the postulated Leu(110)Pro substitution. No further polymorphisms were detected. Our data show that in Southern Germany D category VII is homogenously due to the amino acid substitution Leu(110)Pro. This allows the exploitation of this polymorphism for the prenatal detection of D category VII and the related Tar antigen.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution*
  • Blood Donors
  • Genetic Carrier Screening
  • Humans
  • Isoantibodies / genetics*
  • Leucine
  • Mass Screening
  • Point Mutation
  • Proline

Substances

  • Isoantibodies
  • RH-antibodies
  • Proline
  • Leucine