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Molecular bases of unexpressed RHD alleles in Chinese D− persons
Author(s) -
Ye Luyi,
Yue Danqi,
Wo Dele,
Ding Xiyu,
Guo Shuangmei,
Li Qin,
Guo Zhonghui,
Zhu Ziyan
Publication year - 2009
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/j.1537-2995.2009.02181.x
Subject(s) - allele , genetics , biology , chinese population , polymerase chain reaction , typing , population , phenotype , gene , genotype , medicine , environmental health
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. STUDY DESIGN AND 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‐ Pst I 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. CONCLUSION: 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.