METHOD FOR THE IDENTIFICATION BY MOLECULAR TECHNIQUES OF GENETIC VARIANTS THAT ENCODE NO D ANTIGEN (D-) AND ALTERED C ANTIGEN (C+W)

摘要

The invention relates to genotyping and blood cell antigen determination. In particular, the invention addresses discriminating the RHD*DIIIa-CE(4-7)-D or RHD*DIIIa-CE(4-7)-D)-like blood type variants, from RHD*DIIIa, RHD*DIVa-2 and other blood type variants. The invention provides methods for genotyping a subject, comprising determining at least 4 markers in a sample that has been obtained from the subject, wherein the markers comprise:
(i) the presence or absence of an RHCE*C allele;(ii) the presence or absence of an RHD/RHCE hybrid exon 3 (RHD/CE Hex03) allele;(iii) the absence of, or a single nucleotide polymorphism (SNP) variant within, any one of position 602 of exon 4, position 667 of exon 5, or position 819 of exon 6 of RHD; and(iv) the absence of, or SNP variant within, position 1048 of RHD exon 7.;The invention also provides probes, primers and kits for use in such methods.

主权项

1. A method of discriminating the RHD*DIIIa-CE(4-7)-D or RHD*DIIIa-CE(4-7)-D)-like blood type variants, which express the C+W antigen and lack a D antigen, from RHD*DIIIa, RHD*DIVa-2 and other blood type variants, the method comprising:
determining at least 4 markers in a sample that has been obtained from the subject, wherein the markers comprise:
(i) the presence or absence of an RHCE*C allele;(ii) the presence or absence of an RHD/RHCE hybrid exon 3 (RHD/CE Hex03) allele;(iii) the absence of, or a single nucleotide polymorphism (SNP) variant within, any one of RHD exon 4, RHD exon 5, or RHD exon 6; and(iv) the absence of, or SNP variant within, RHD exon 7.