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Partial D phenotypes and genotypes in the Chinese population
Author(s) -
Ye Luyi,
Wang Pan,
Gao Huanhuan,
Zhang Jiamin,
Wang Chen,
Li Qin,
Han Shasha,
Guo Zhonghui,
Yang Ying,
Zhu Ziyan
Publication year - 2012
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.1537-2995.2011.03266.x
Subject(s) - phenotype , genotype , genetics , genotype phenotype distinction , chinese population , population , biology , medicine , gene , environmental health
BACKGROUND: The D variant phenotypes are often categorized into weak D types and partial D types. Although the molecular basis underlying the partial D phenotype has been investigated in several races, data from Chinese populations are rare. STUDY DESIGN AND METHODS: We collected partial D samples from 1,274,540 blood donors, as well as from sporadic patients in the Chinese population, over a 4‐year period. Samples with partial D phenotype were determined by commercial monoclonal anti‐D panels and molecular methods. Blood samples with discrepant results of serologic and molecular methods were further investigated by polymerase chain reaction (PCR) with sequence‐specific primers and nucleotide sequencing of RHD exons. The detection of antibodies was performed. RESULTS: A total of 44 samples with partial D phenotypes were confirmed. Molecular typing revealed five different known aberrant alleles as well as four new RHD alleles. As described previously, DVI represented the most frequent partial D type in China with a total of 36 samples. However, discrepant results were observed in four DVI samples with serotyping and genotyping (i.e., DVI category identified by D‐screen test and grossly intact RHD gene identified by multiplex PCR). We also found four novel alleles, termed DFR‐4, DCS‐3, DCC, and DLX. CONCLUSION: To date, this study presents the most comprehensive report on partial D in China. The distribution of partial D types in China was found to be complicated and polymorphic, whereas RhD genotyping of DVI‐variant samples might give inaccurate results due to a relatively high incidence of RHD (1227G>A) in the Chinese population.