福建省RhD阴性个体RHD基因多态性

为了探讨RhD阴性福建个体的RHD基因结构，设计14对序列特异性引物，应用PCR—SSP技术检测104名福建省RhD阴性献血者的RH基因型，并对部分样本进行吸收放散试验，同时对2例携带RHD基因RhD阴性样本进行DNA序列测定。结果显示，61．54％阴性福建个体完全缺失RHD基因（RHD^-／RHD^-），25．97％RhD携带RHD1227A等位基因（其中62．96％为RHD^＋／RHD^-杂合子，37．04％为RHD^＋／RHD^＋纯合子），8．65％携带RHD-CE（2—9）-D等位基因，1．92％携带RHD710delC等位基因；多数RHD基因缺失存在于dce单倍体中，发现6例RHD基因缺失存在于dCe单倍体（RH基因型为dce／dCe）中，2例存在于dcE单倍体（RH基因型为dce／dcE）中；同时检测8个RHD基因外显予以及RHD1227A等位基因，以预测RhD表型的准确性明显高于单独检测某个RHD基因外显子的准确性（Χ^2=24．43，P〈0.005）。结论：RhD阴性福建个体RHD基因具有多态性；在中国用RHD基因分型完全替代血清学检测RhD表型的条件尚未成熟。

RHD Gene Polymorphism of RhD Negative Individuals in Population of Fujian Province

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.