Molecular bases of unexpressed RHD alleles in Chinese D- persons.
BACKGROUND
The aim of this study was to use a systematic survey to analyze RHD alleles in Chinese D- donors who do not express D antigen or who lack functional RhD protein.


METHODS
A total of 733 D-Chinese donors, not including Del phenotypes, were investigated by RHD polymorphism–specific polymerase chain reaction (PCR), Rhesus box PCR-PstI digestion, and RHD sequencing. The frequencies of identified alleles were calculated.


RESULTS
Three genetic mechanisms and eight alleles were found associated with the Chinese D- phenotype. One new RHD/CE hybrid allele and one novel mutation were also found. The rates of total deletion and the most frequent hybrid allele RHD(1)-CE(2-9)-D(10) were similar to those found in previous studies. A previously reported mutation RHD(711delC) was found to be the predominant cause of aberrant RHD alleles.


CONCLUSIONS
Informative population-based data for improving molecular diagnostic strategies for Chinese D- persons are suggested by this study. This type of systematic knowledge is important for the development of typing and transfusion strategies for the Chinese population.
Ye
Luyi
L
Shanghai Institute of Transfusion Medicine, Shanghai Blood Center, Shanghai, China.
Yue
Danqi
D
Wo
Dele
D
Ding
Xiyu
X
Guo
Shuangmei
S
Li
Qin
Q
Guo
Zhonghui
Z
Zhu
Ziyan
Z
D000483:Alleles; D044466:Asian People; D001782:Blood Donors; D002681:China; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D012204:Rh-Hr Blood-Group System / Q000096:biosynthesis / Q000235:genetics*
D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen