Analysis of genomic structure of a novel RHD allele / 中国输血杂志

ABSTRACT

Objective To analyze the genomic structure of a novel RHD allele. Methods Through polymerase chain reaction (PCR), sequence specific primer-PCR(SSP-PCR) and genomic DNA sequencing,the RHD gene in a D-negative individual was detected. Results In SSP-PCR tests, the sample was tested negative for exons 3~7, 9~10 and intron 2(Din 2), but was positive for the Rh downstream Box3. The RHCE genotype was Ccee. Three PCR methods were used to detect intron 10(Din10) of RHD gene;all gave negative results. Through a RHD full length coding region sequencing method, the sample was found to have sequences identical to normal RHD in exons 1 and 2, while exons 3~10 were negative. Conclusion The sample is D antigen negative, RHD gene positive, with amalgamative allele of RHD-CE(2~10).