Mutational analysis for FUT1 gene in two cases with para-Bombay blood type / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study two cases of rare para-Bombay blood types Bmh and Amh in order to determine clinical strategies of blood transfusion.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>