RHD gene polymorphism of RhD negative individuals in population of Fujian province / 中国实验血液学杂志

ABSTRACT

To investigate the RHD gene profiles of RhD-negative individuals in population of Fujian Province, it was to design fourteen pairs of specific primers to amplify RHD exon 1, 3 approximately 7, 9, 10, hybrid Rh box, RHD 1227A allele, RHC allele, RHc allele, RHE allele and RHe allele. Rh genotypes were detected by PCR-SSP in 104 RhD-negative donors, some samples with or without RHD genes were analysed by the absorption-elution test, and two RhD-negative samples with eight RHD exons detected were analysed by DNA sequencing. The results showed that 61.54% RhD-negative individuals lacked all the eight RHD exons detected (RHD-/RHD-), 25.97% carried the RHD 1227A allele (62.96% of which were the heterozygote of RHD+/RHD-, and 37.04% were the homozygote of RHD+/RHD+), 8.65% carried the RHD-CE (2 approximately 9)-D allele (RHD+/RHD-), and 1.92% carried the RHD 710delC allele (RHD+/RHD-). Though the most cases of RHD gene deletion were found in dce haplotype, six cases of RHD gene deletion were found in dCe (their RH genotypes were dce/dCe) and two in dcE haplotype (their RH genotypes were dce/dcE). And it was not accurate to predict the Rh phenotype by detecting a single RHD exon, however, and more accurate when eight RHD exons and RHD 1227A allele were detected (chi2=24.43, p<0.005). It is concluded that RHD genes in population of Fujian Province are polymorphic and the RHD genotyping is not reliable enough to replace the RhD serotyping in China.