The family investigation of a weak D type 15 donor / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the genetic feature of weak D type 15 allele (RHD845A) in a Chinese family.</p><p><b>METHODS</b>Rh D, C, c, E and e phenotypes of 4 members in a weak D type 15 family were tested by serological and polymerase chain reaction (PCR), D antigen was proven by indirect antiglobulin test. A pair of primers specific for RHD845A were designed, and a sequence specific primer-PCR (PCR-SSP) method was established to detect RHD845A allele in all family members. Subsequently the dual-tube PCR method was used to determine the RHD zygosity of 4 members.</p><p><b>RESULTS</b>The RHD845A allele existed in all 4 family members and the RHD zygosity test showed that all members were RHD +/RHD + homozygous. The parents and nephew possessed one normal RHD gene as RHD845A allele carriers, which caused RhD positive. The proband and his old-sister took two RHD845A alleles, which caused weak D phenotype.</p><p><b>CONCLUSION</b>The proband is the weak D type 15 allele homozygous. The weak D type 15 gene is an ancestral allele, but not a mutation.</p>

Whole exon 5 and intron 5 replaced by RHD/CE in partial D phenotype DVa (Hus) / 中国实验血液学杂志

The study was purposed to analyze DNA and allele structure of the partial D phenotypes D(Va) and D(VI) of the Rhesus blood group in Chinese. Through polymerase chain reaction (PCR) and direct genomic DNA sequencing, the RHD gene was detected in three weak D individuals identified serologically. The results showed that among the three weak D individuals, one was identified as partial D phenotype D(Va) (Hus) type and genotyped DccEe; another two were testified as D(VI) III type and genotyped DCcee. Moreover, the breakpoints of the replaced region by RHCE in D(Va) (Hus) were 5' end of the exon 5 and 3' end of the intron 5, and there were 7 novel polymorphisms in intron 5: 23-25(GCA)2, 98G>A, 168-169insG, 205-206insT, 494-495insA, 1256-1257insC, 1347G>T. In conclusion the whole exon 5 and intron 5 are replaced by RHCE in D(Va) (Hus) detected in Chinese.

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

<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>