title: [Whole exon 5 and intron 5 replaced by RHD/CE in partial D phenotype DVa (Hus)].
abstract: 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.
authors.affiliation: Shenzhen Blood Center, Shenzhen 518035, China. yyzhou@szbc.org
authors.forename: Yi-Yan
authors.initials: YY
authors.lastname: Zhou
authors.forename: Wen
authors.initials: W
authors.lastname: Xiong
authors.forename: Chao-Peng
authors.initials: CP
authors.lastname: Shao
mesh_terms: D002681:China; D005091:Exons / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen