[Comparison between genotyping and serological phenotyping in RhCE blood group].
OBJECTIVE
To genotype the RHCE gene of Hans, Xinjiang's Uigurs and Kazakstans in China, and to compare the results of RHCE genotyping with that of RhCc/Ee phenotyping.


METHODS
RHCE genes of 98 Hans with RhD positive and 230 Hans, 72 Uigurs and 18 Kazakstans with RhD/RHD negative were genotyped with PCR-sequence specific primer (SSP) technique.


RESULTS
The results of RHE/RHe genotyping from samples with RhD positive and negative were in accord with that of phenotyping. It would result in 4.44% error using C-->G polymorphism at nt48 of RHCE gene to genotype RHCE, and 4.05% failure of detection using the 109 bp insertion to detectRHCE gene in Chinese Hans. The results of RHE/RHe genotyping in unrelated 72 Uigurs and 18 Kazakstans with RhD phenotype were consistent with that of phenotyping, and false positive and false negative were not found in genotyping in Uigurs and Kazakstans tested.


CONCLUSIONS
The results of RHE/RHe and RHc genotyping were correct with PCR-SSP and accordant with that of phenotyping. Using the C48G polymorphism in exon 1 of RHCE to genotype RHC gene would result in false positive resulting from RHc mutation at this locus, and using the 109 bp insertion to genotype RHC gene would result in false negative because of the absence of the 109 bp. Therefore it is necessary to genotype RHC gene using more than two polymorphic loci.
Zhou
Hua-you
HY
The Second Affiliated Hospital, Guangzhou University of Traditional Chinese Medicine, Guangzhou, Guangdong 510120 People's Republic of China. zohoyo@hotmail.com
Zhang
Yin-ze
YZ
Meng
Qing-bao
QB
Bai
Xu-hua
XH
Wang
Cong-rong
CR
Cao
Qiong
Q
Lan
Jiong-cai
JC
D005006:Ethnicity / Q000235:genetics; D005838:Genotype; D006801:Humans; D010641:Phenotype; D011110:Polymorphism, Genetic; D012204:Rh-Hr Blood-Group System / Q000097:blood / Q000235:genetics*; D012698:Serologic Tests / Q000379:methods*
C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen