BACKGROUND: The para-Bombay phenotype is characterized by the absence or weak expression of ABH antigens on the surface of red blood cells, but normal expression in saliva. STUDY DESIGN AND METHODS: The para-Bombay phenotype of the nine Chinese probands was identified by standard serologic techniques. The coding regions of FUT1 and FUT2 genes were amplified by polymerase chain reaction and then directly sequenced. ABO genotyping was performed by polymerase chain reaction with sequence-specific priming method. The FUT1 and FUT2 genotypes and the distribution in all reported Chinese para-Bombay individuals including our study were also summarized. RESULTS: Five FUT1 genotypes, h1h3 (n = 3), h1h2 (n = 3), h1h1 (n = 1), h3h3 (n = 1), and h2h3 (n = 1), and three functional FUT2 genotypes, Se(357) Se(357) (n = 4), Se(357) Se(357, 716) (n = 4), and Se(357) Se(357, 385) (n = 1) described before were identified in nine probands. CONCLUSIONS: The review of the literature shows that a total of 17 FUT1 alleles and four FUT2 alleles (Se(357), Se(357,716), Se(357 385), Se) have been identified in Chinese para-Bombay individuals. The four FUT1 alleles, h1 (547delAG), h2 (880delTT), h3 (C658T), and h4 (C35T; A980C) are most prevalent, which account for more than 90% of all allele counts and are essential to be involved when developing para-Bombay genotyping kit for Chinese.
BACKGROUND: The para-Bombay phenotype is characterized by the absence or weak expression of ABH antigens on the surface of red blood cells, but normal expression in saliva. STUDY DESIGN AND METHODS: The para-Bombay phenotype of the nine Chinese probands was identified by standard serologic techniques. The coding regions of FUT1 and FUT2 genes were amplified by polymerase chain reaction and then directly sequenced. ABO genotyping was performed by polymerase chain reaction with sequence-specific priming method. The FUT1 and FUT2 genotypes and the distribution in all reported Chinese para-Bombay individuals including our study were also summarized. RESULTS: Five FUT1 genotypes, h1h3 (n = 3), h1h2 (n = 3), h1h1 (n = 1), h3h3 (n = 1), and h2h3 (n = 1), and three functional FUT2 genotypes, Se(357) Se(357) (n = 4), Se(357) Se(357, 716) (n = 4), and Se(357) Se(357, 385) (n = 1) described before were identified in nine probands. CONCLUSIONS: The review of the literature shows that a total of 17 FUT1 alleles and four FUT2 alleles (Se(357), Se(357,716), Se(357 385), Se) have been identified in Chinese para-Bombay individuals. The four FUT1 alleles, h1 (547delAG), h2 (880delTT), h3 (C658T), and h4 (C35T; A980C) are most prevalent, which account for more than 90% of all allele counts and are essential to be involved when developing para-Bombay genotyping kit for Chinese.