D-category VIi depends on amino acid substitution Leu (110) Pro
Wagner, F.F.; Hillesheim, B.; Flegel, W.A.
Beitrage Zur Infusionstherapie und Transfusionsmedizin 34: 220-223
1997
ISSN/ISBN: 1023-2028 PMID: 9417343 Document Number: 481513
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.