Molecular bases of unexpressed RHD alleles in Chinese D− persons

• Published in: Transfusion (Philadelphia, Pa.) Pa.), 2009-08, Vol.49 (8), p.1655-1660
• Main Authors: Ye, Luyi, Yue, Danqi, Wo, Dele, Ding, Xiyu, Guo, Shuangmei, Li, Qin, Guo, Zhonghui, Zhu, Ziyan
• Format: Article
• Language: English
• Subjects: Alleles; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Asian Continental Ancestry Group; Biological and medical sciences; Blood Donors; Blood. Blood and plasma substitutes. Blood products. Blood cells. Blood typing. Plasmapheresis. Apheresis; Blood. Blood coagulation. Reticuloendothelial system; China; Female; Gene Expression Regulation - genetics; Humans; Male; Medical sciences; Mutation; Pharmacology. Drug treatments; Rh-Hr Blood-Group System - biosynthesis; Rh-Hr Blood-Group System - genetics; Transfusions. Complications. Transfusion reactions. Cell and gene therapy
• ISSN: 0041-1132; 1537-2995
• DOI: 10.1111/j.1537-2995.2009.02181.x

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‐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. 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.