title: [Molecular background of weak D type 15 as the predominant weak D type found in Chinese population].
abstract: This study was aimed to investigate the molecular genetic basis and serological phenotype of Rh weak D type 15 individuals. Samples were identified by serological tests and genotyped by sequence specific primer-PCR (SSP-PCR), and were sequenced to detect the changes of all ten RHD exons. The number of gene RHD was detected through SSP-PCR. The results showed that in tested individuals of weak D type confirmed by the IAT, 18 cases (56% in weak D) were weak D type 15. Rh factors found in 2 weak D type 15 individuals (11%) were C+c+E+e; Rh factors found in 2 weak D type 15 individuals (11%) were C+c+E-e+; others (78%) were c-c+E+e+. The results by serological tests were consistent with the results genotyped by PCR-SSP method. In all 18 samples, the sequencing result revealed a gene mutation 845G > A at the exon 6 of the RHD and the point mutation changed amino acid G282D of the RhD polypeptide. The zygosity test demonstrated that 2 out of 18 weak D type 15 individuals were RHD(+)/RHD(+) homozygous (two DCe/DcE), 16 cases were RHD(+)/RHD(-) heterozygous (two DCe/dce and fourteen DcE/dce). It is concluded that Weak D type 15 is predominant in weak D individuals of Chinese Han Nationality, and most of them are heterozygous with various RH haplotypes.
authors.affiliation: Department of Blood Transfusion, Handan Central Blood Station, Handan 056001, China. sgd66@sohu.com
authors.forename: Guo-Dong
authors.initials: GD
authors.lastname: Sun
authors.forename: Xian-Min
authors.initials: XM
authors.lastname: Duan
authors.forename: Yan-Ping
authors.initials: YP
authors.lastname: Zhang
authors.forename: Zhi-Zhu
authors.initials: ZZ
authors.lastname: Yin
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Niu
authors.forename: Yan-Feng
authors.initials: YF
authors.lastname: Li
authors.forename: You-Liang
authors.initials: YL
authors.lastname: Zhao
authors.forename: Hai-Jiang
authors.initials: HJ
authors.lastname: Niu
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001782:Blood Donors; D002681:China / Q000208:ethnology; D004912:Erythrocytes / Q000276:immunology*; D005091:Exons / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; 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