[Mutational analysis for FUT1 gene in two cases with para-Bombay blood type].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi

Institute of Transfusion, Ningbo Blood Center, Ningbo, Zhejiang, People's Republic of China.

Published: December 2011

Objective: To study two cases of rare para-Bombay blood types Bmh and Amh in order to determine clinical strategies of blood transfusion.

Methods: ABO blood type was determined with serological assays. The samples were also genotyped with polymerase chain reaction-sequence specific primer (PCR-SSP) for potential mutations in α-1,2-fucosyltransferase gene (FUT1). The results were verified with direct sequencing.

Results: Two rare para-Bombay blood types, namely Bmh and Amh, were identified by serological method, with one being BO1 which contained a FUT1 allele 547-548delAG deletion (h1h1), and another being A205O2 which contained FUT1 allele a 547-548delAG deletion and a FUT1 allele 658C/T missense mutation (h1h3).

Conclusion: FUT1 allele 547-548delAG deletion and 658C>T missense mutation in part form the molecular basis of para-Bombay blood types. As Bmh and Amh contain anti-HI in sera, great attention should be paid to avoid adverse reaction of blood transfusion in clinics.

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Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2011.06.022DOI Listing

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