Rh缺失型D--个体及其家系成员基因分型及遗传背景分析

目的分析Rh缺失型D--个体及其家系成员的基因分型及遗传背景。方法采用序列特异性引物聚合酶链反应(PCR-SSP),对Rh缺失型D--个体及其家系成员的RHD和RHCE基因的特异性序列进行扩增,并对扩增产物进行分析。结果先证者家系成员PCR结果与血清学表型基本相符,先证者RHD基因未见异常,未检出RHCE基因的特异性序列,其他家系成员均有正常表型及RHCE基因PCR产物。结论先证者RHCE基因大部分或全部缺失是造成其Rh缺失型D--的重要分子基础。先证者RHCE基因缺失,很可能其父母双方分别携带一条D--单倍型,在遗传时均将其遗传给先证者,从而形成Rh缺失型D--。

Genotyping and Genetic Background of A Rh D--Individual and Her Family Members

Objective To analyze the genotype and genetic background of a Rh D--individual and her family members. Methods The specific sequences of RHD and RHCE genes of a Rh D--individual and her family members were amplified by PCRSSP and analyzed. Results The PCR results of family members of the index case were basically consistent with their serological phenotypes. The RHD gene of index case showed no abnormality, while no specific sequence of RHCE gene was detected. However, the phenotypes and PCR products of RHCE genes of her family members were normal. Conclusion The important molecular basis of Rh D--was partial or complete deletion of RHCE gene of index case, which was deduced to be due to the two D--haplotypes carried by her father and mother respectively.