Molecular analysis to FUT-1, 2, 3 and ABO genotyping may instead of serological typing to diagnose para-Bombay in Chinese
  
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DOI:10.46701/APJBG.20170217032
KeyWord:para-Bombay, FUT-1, FUT-2, FUT-3, ABO blood group
                    
AuthorInstitution
HaoChun Chang, Department of Clinical Medicine, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China.
XiaoFei Li Blood Group Lab, Beijing Red Cross Blood Center, Beijing 100088, China.
Yu-Shiang Lin Department of Clinical Medicine, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China.
Zhiyuan Xu Blood Group Lab, Beijing Red Cross Blood Center, Beijing 100088, China.
Daowang Fan Blood Group Lab, Beijing Red Cross Blood Center, Beijing 100088, China.
Yan Qiu Blood Group Lab, Beijing Red Cross Blood Center, Beijing 100088, China.
Tianhong Miao Blood Group Lab, Beijing Red Cross Blood Center, Beijing 100088, China.
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Abstract:
      The aim of this study was to evaluate the consistency between serotyping and molecular analysis in Chinese with para-Bombay. The molecular analysis of gene fragments in FUT-1, FUT-2, FUT-3 and ABO genotyping and serotyping were used including a saliva test to examine the A, B, H substance and an absorption elution test to examine the A, B, H; and further routine tests including ABO, H and Lewis phenotype. From eleven samples with anti-H negative, 10 samples were confirmed with para-Bombay by sequencing to FUT-1, from which six samples were 547-548delAG, three samples were 880TT deletion, one sample was 35C>T and one sample was 649G>T heterozygous (h7, China) as carrier. The sequencing to FUT-2 confirmed 357C>T in 11 samples, meaning H, A and B substance was secreted in saliva except for one sample which occurred 385A>T (I129F) heterozygous, which is a weak secretor. The FUT-3 sequence result demonstrated four samples with heterozygous mutations to 59T>G (L20R) combined with 508G>A (G170S) and seven samples without mutations in FUT-3 gene fragment same as reference. The consistency between sequencing with FUT-1/FUT-2 and serotyping by anti-H reported an identical result, except for one sample, which interestingly showed the H/h7 carrier with serotyping negative to anti-H. The result of sequencing with FUT-2/FUT-3 and Lewis phenotyping also reported a complete consistency. The saliva test to A, B, H substance and absorption elution test examining the A, B, H antigens on the surface of red blood cells completely matched the ABO exon 6, 7 sequence results. The sequencing of FUT-1, FUT-2, FUT-3 and ABO exon 6, 7 may become a useful tool to confirm the para-Bombay blood type.
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