Molecular characterization of the Fy(a-b-) phenotype in a Polish family

摘要

The Fy(a-b-) phenotype, very rare in Caucasians and defined by the homozygous FY*B-33 allele, is associated with the -33TC mutation in the promoter region of the FY gene. The allele FY*X is correlated with weak expression of Fyb antigen due to 265CT and 298GA mutations in FY*B allele. The purpose of this study was molecular characterization of Fy blood group antigens in Fy(a-b-) members of a Polish family. High-resolution melting analysis was performed to detect single nucleotide polymorphisms in amplified fragments of the FY gene. The Fy(a-b-) phenotype in three siblings of the Polish family was caused by the FY*X/FY*B-33 genotype.