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The summary of FUT 1 and FUT 2 genotyping analysis in C hinese para‐ B ombay individuals including additional nine probands from G uangzhou in C hina
Author(s) -
Luo Guangping,
Wei Ling,
Wang Zhen,
Luo Hong,
Zhao Yang,
Zhang Runqing,
Mo Chunyan,
Ji Yanli
Publication year - 2013
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/trf.12183
Subject(s) - genotyping , genotype , allele , polymerase chain reaction , biology , microbiology and biotechnology , genetics , gene
Background The para‐ B ombay 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‐ B ombay phenotype of the nine Chinese probands was identified by standard serologic techniques. The coding regions of FUT 1 and FUT 2 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 FUT 1 and FUT 2 genotypes and the distribution in all reported Chinese para‐Bombay individuals including our study were also summarized. Results Five FUT 1 genotypes, h1h3 (n = 3), h1h2 (n = 3), h1h1 (n = 1), h3h3 (n = 1), and h2h3 (n = 1), and three functional FUT 2 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 FUT 1 alleles and four FUT 2 alleles ( Se 357 , S e 357,716 , Se 357 385 , Se ) have been identified in Chinese para‐ B ombay individuals. The four FUT 1 alleles, h1 (547 delAG ), h2 (880 delT T), h3 ( C 658 T ), and h4 ( C 35 T ; A 980 C ) are most prevalent, which account for more than 90% of all allele counts and are essential to be involved when developing para‐ B ombay genotyping kit for C hinese.