title: [Molecular basis of Rh DEL phenotype in Zhejiang Han population].
abstract: This study was purposed to investigate the molecular basis of Rh DEL phenotype. Rh DEL phenotypes were identified by a serologic adsorption-elution method, the nucleotide sequences of ten RHD exons and exon-intron boundary regions were evaluated by a RHD gene-specific PCR-SSP (PCR-SSP, polymerase chain reaction-sequence specific primer) and sequencing. The results showed that out of 122 random Rh negative donors 35 Rh DEL phenotypes were identified through serologic method, including 6 RhCCdee (17.14%), 28 RhCcdee (80.00%), and 1RhCcdEe (2.86%). Sequence analysis indicated that all DEL phenotypes harbored a RHD 1227 G > A mutation in exon 9. D zygosity test revealed that 29 DEL phenotypes (28 RhCcdee and 1 RhCcdEe) had one RHD gene deleted, and 6 DEL phenotypes (6 RhCCdee) had homogenous RHD gene. It is concluded that RHD 1227A is an important genetic marker for Rh DEL phenotype in Zhejiang Han population.
authors.affiliation: Department of Transfusion Medicine, Jinhua Central Hospital, Jinhua 321000, China.
authors.forename: An-Xin
authors.initials: AX
authors.lastname: Chen
authors.forename: Jun-Jie
authors.initials: JJ
authors.lastname: Wu
authors.forename: Feng-Juan
authors.initials: FJ
authors.lastname: Xu
authors.forename: Li-Ying
authors.initials: LY
authors.lastname: Zhang
authors.forename: Ying-Hua
authors.initials: YH
authors.lastname: Ni
authors.forename: Qi-Hua
authors.initials: QH
authors.lastname: Fu
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001782:Blood Donors; D002681:China / Q000208:ethnology; D004912:Erythrocytes / Q000276:immunology*; D005091:Exons / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D012204:Rh-Hr Blood-Group System / Q000235:genetics* / Q000276:immunology; D017422:Sequence Analysis, DNA
chemical_list: D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen