title: Genetic polymorphism of RhD-negative associated haplotypes in the Chinese.
abstract: The Rh blood group is the most polymorphic human blood group system, and is clinically significant in transfusion medicine. Individuals are classified as Rh-positive and Rh-negative depending on the presence or absence of the D antigen on the red cell surface. The RhD-negative trait could be generated by multiple genetic mechanisms, which have been shown to be ethnic group-dependent. In this study, we evaluated the status of seven RHD-specific exons (exons 3, 4, 5, 6, 7, 9, and 10) and RH intron 4 in 119 Chinese blood donors, using the sequence-specific primers polymerase chain reaction (SSP-PCR). Of the 87 individuals who were RhD-negative, 52 with the ce/ce, ce/cE, or Ce/ce genotype (60%) lacked the above seven RHD exons; 22 with the Ce/Ce or Ce/ce genotype (25%) had all the RHD exons examined; 13 with the Ce/ce genotype (15%) carried at least one RHD exon. Antigen association analysis suggested the existence of a novel class of RhD-negative associated haplotypes in the Chinese, tentatively denoted D(nf)Ce. The D(nf)Ce haplotype consisted of a normal RHCe allele and a nonfunctional RHD gene, which vary depending on the structure of the RHD gene. Among the RhD-negative Chinese, the estimated frequencies of the dce, dCe, and D(nf)Ce haplotypes were 0.7500, 0.0465, and 0.2035, respectively. No statistically significant deviation from Hardy-Weinberg equilibrium was observed using this genetic model.
authors.affiliation: Blood Bank, Nanfang Hospital, Guangzhou, People's Republic of China.
authors.forename: J C
authors.initials: JC
authors.lastname: Lan
authors.forename: Q
authors.initials: Q
authors.lastname: Chen
authors.forename: D L
authors.initials: DL
authors.lastname: Wu
authors.forename: H
authors.initials: H
authors.lastname: Ding
authors.forename: D B
authors.initials: DB
authors.lastname: Pong
authors.forename: T
authors.initials: T
authors.lastname: Zhao
mesh_terms: D002681:China; D004247:DNA / Q000097:blood; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: D012204:Rh-Hr Blood-Group System; D004247:DNA