title: [D-category VII depends on amino acid substitution Leu(110)Pro].
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.
authors.affiliation: Abteilung Transfusionsmedizin, Universität Ulm, Deutschland.
authors.forename: F F
authors.initials: FF
authors.lastname: Wagner
authors.forename: B
authors.initials: B
authors.lastname: Hillesheim
authors.forename: W A
authors.initials: WA
authors.lastname: Flegel
mesh_terms: 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
chemical_list: D007518:Isoantibodies; C033242:RH-antibodies; D011392:Proline; D007930:Leucine