title: [Mutational analysis for FUT1 gene in two cases with para-Bombay blood type].
abstract: 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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Institute of Transfusion, Ningbo Blood Center, Ningbo, Zhejiang, People's Republic of China. deyixu2006@126.com
authors.forename: De-yi
authors.initials: DY
authors.lastname: Xu
authors.forename: Gang
authors.initials: G
authors.lastname: Deng
authors.forename: Dan-dan
authors.initials: DD
authors.lastname: Huang
authors.forename: Wei-jun
authors.initials: WJ
authors.lastname: Zhao
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D001483:Base Sequence; D001788:Blood Grouping and Crossmatching; D004252:DNA Mutational Analysis; D005091:Exons; D005647:Fucosyltransferases / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA; D000097631:Galactoside 2-alpha-L-fucosyltransferase
chemical_list: D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase