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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):694-8. doi: 10.3760/cma.j.issn.1003-9406.2011.06.022.
[Article in Chinese]

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).

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • ABO Blood-Group System / genetics*
  • Base Sequence
  • Blood Grouping and Crossmatching
  • DNA Mutational Analysis*
  • Exons
  • Fucosyltransferases / genetics*
  • Galactoside 2-alpha-L-fucosyltransferase
  • Genotype
  • Humans
  • Mutation
  • Sequence Analysis, DNA

Substances

  • ABO Blood-Group System
  • Fucosyltransferases