The family investigation of an RHD 270A allele carrier / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>Previously the weak D and D category allele were investigated in Caucasian and Japanese families. The current study is aimed at an RHD positive, D antigen negative allele in a Chinese family.</p><p><b>METHODS</b>A pair of primers specific for RHD 270A allele were designed, and a sequence specific primer-PCR (SSP-PCR) method was then established to detect RHD 270A allele in 6 members of a family. Furthermore, RFLP method was used to determine the RHD zygosity in all family members.</p><p><b>RESULTS</b>The RHD 270A allele was detected in the proband, her father and uncle but not grandmother. Therefore this allele may be from grandfather and is inherited through 3 generations. The RHD zygosity test showed that the father and uncle possess one normal RHD gene as RHD 270A carriers, the mother is RHD(+)/RHD(-)heterozygote and the individual is RHD 270A/RHD(-)which causes an RHD positive, D antigen negative trait.</p><p><b>CONCLUSION</b>The RHD 270A allele is an ancestral allele, but not a spontaneous.</p>