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| Mutation of FUT1 and FUT2 of para-Bombay phenotypes and pedigree genetic analysis |
| LIU Qiuju,JIANG Xianguo |
| Department of Blood Transfusion, the People’s Hospital of Cangnan County, Wenzhou325800, China |
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| Cite this article: |
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LIU Qiuju,JIANG Xianguo. Mutation of FUT1 and FUT2 of para-Bombay phenotypes and pedigree genetic analysis[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2022, 52(3): 230-232,236.
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Abstract Objective: To analyze the mutation of FUT1 and FUT2 genes of a rare para-Bombay phenotype and its genealogy. Methods: A patient with para-Bombay blood type treated in the People’s Hospital of Cangnan County on December 22, 2019 was selected. Tube agglutination method was used for ABO blood type and H antigen testing. ABO week antigens on red blood cells were determined by erythrocytes absorption-radiation testing. PCR-SBT method was used to sequence the gene of FUT1 and TUT2, and venous blood samples of his wife and daughter were extracted for examination. Results: The blood type of proband and his daughter was Amh
type, H antigen negative. Direct sequencing results showed FUT1 c.551-552delAG, FUT2 c.357C>T, c.385A>T.His wife’s blood type was A, H antigen positive; ABO blood group genotypes were all ABO*A1.02/O.01.02.Conclusion: FUT1 and FUT2 genes of proband were inherited to his daughter.
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Received: 15 December 2021
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