[D-category VII depends on amino acid substitution Leu(110)Pro].
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.
Wagner
F F
FF
Abteilung Transfusionsmedizin, Universität Ulm, Deutschland.
Hillesheim
B
B
Flegel
W A
WA
D019943:Amino Acid Substitution; D001782:Blood Donors; D006580:Genetic Carrier Screening; D006801:Humans; D007518:Isoantibodies / Q000235:genetics*; D007930:Leucine; D008403:Mass Screening; D017354:Point Mutation; D011392:Proline
D007518:Isoantibodies; C033242:RH-antibodies; D011392:Proline; D007930:Leucine