title: Whole exon 5 and intron 5 replaced by RHCE in DVa(Hus).
abstract: The DVa(Hus) was previously investigated through cDNA analysis, which revealed an RHD-CE(5)-D hybrid allele. However, the 5' and 3' breakpoints remain unknown. In this article, gene recombinations between the RHD and RHCE alleles were investigated by a combination approach of a sequence-specific primer PCR (PCR-SSP) and an RHD full-length coding region sequencing method on two Chinese subjects with weak D phenotypes. The hybrid Rhesus box of each individual was also investigated through an established PCR-based method. As a result, two partial D phenotypes, DVa(Hus) and DVI type III, were identified, each carrying one hybrid RHD-CE-D allele. The two samples were also serotyped with Rh phontypes of DccEe and DCcee, respectively. Other sequencing analyses of the DVaHus sample showed that the sequence of intron 4 is identical with RHD, whereas the whole sequence of exon 5 and intron 5 is identical with RHCE except for seven polymorphisms in the intron 5. We may concluded that in the case of this Chinese DVa(Hus), the whole exon 5 and complete intron 5 of a total segment of 1801 nucleotides were replaced by RHCE suggesting that the breakpoints of the replaced region are the 5' end of the exon 5 and the 3' end of the intron 5.
authors.affiliation: Shenzhen Blood Center and Shenzhen Institute of Transfusion Medicine, Meigang South Street, Nigang West Road, 518035, Futian, Shenzhen, China. cpshaos@hotmail.com.
authors.forename: Chaopeng
authors.initials: C
authors.lastname: Shao
authors.affiliation: Shenzhen Blood Center and Shenzhen Institute of Transfusion Medicine, Meigang South Street, Nigang West Road, 518035, Futian, Shenzhen, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Xiong
authors.affiliation: Department of Biology, Graduate School, Chinese Academy of Sciences, Beijing, China.|Peking University Shenzhen Hospital and Medical Centre of Peking University, Hong Kong University of Science & Technology, Shenzhen, China.|School of Public Health, Peking University Health Science Centre, Beijing, China.|Centre for Human Genetics, Edith Cowan University, Perth, Western Australia, Australia.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
mesh_terms: D000483:Alleles; D002681:China; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D040461:Gene Components; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D011995:Recombination, Genetic / Q000235:genetics*; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D006023:Glycoproteins; C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen