A comprehensive survey of a novel RHD838A allele in a proposita family
【摘要】：Background: Previous studies of the Rh blood group system have shown that racial differences exist not only in the genetic background of the RHD gene but also in the frequencies of the RHD allele. A novel allele RHD838 A was found in our previous study by a large-scale investigation The purpose of the present study was to elucidate the molecular characteristics of the novel RHD838 A allele in a proposita family. Methods: To further analyse the inheritance of the RHD838 A allele, a full investigation including family members was undertaken. Rh phenotype was determined by serologic method. A pair of primers specific for RHD838 A was designed, and a sequence specific primer-PCR(PCR-SSP)method was then established to detect the RHD838 A allele. The RHD coding region structures were analysed by sequencing. Furthermore, a PCR-RFLP method was used to determine the RHD zygosity in all family members. Results: The RHD838 A allele existed in the proposita, her mother and maternal grandfather but not in her father, uncle, paternal grandparents and maternal grandmother. The results showed that the RHD838 A allele came from her maternal grandfather and was inherited through three generations. The RHD zygosity test showed the individual carrying the RHD838 A was RHD838A/RHD- heterozygote, which caused the DEL phenotype. Conclusion: For the first time, we demonstrate that the RHD838GA allele is a genetic allele, rather than the formation of a spontaneous individual gene mutation.