[Two base deletion of the alpha (1,2) fucosyltransferase gene responsible for para-Bombay phenotype]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):215-8.
[Article in Chinese]


Objective: To probe into the molecular genetics basis for para-Bombay phenotype.

Methods: Red blood cell phenotype of the proband was characterized by serological techniques. Exons 6 and 7 of ABO gene, the entire coding region of alpha(1,2) fucosyltransferase (FUT1) gene and FUT2 gene were amplified by polymerase chain reaction (PCR) from genomic DNA of the proband respectively. The PCR products were excised and purified from agarose gels and were directly sequenced.

Results: AG at 547-552 deletion homozygous allele was found in the proband, which caused a reading frame shift and a premature stop codon. Parents of proband were heterozygous carriers.

Conclusion: Two base deletion at position 547-552 of alpha (1,2) fucosyltransferase gene may cause para-Bombay phenotype.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / genetics*
  • Fucosyltransferases / genetics*
  • Humans
  • Male
  • Mutation*
  • Phenotype


  • ABO Blood-Group System
  • Fucosyltransferases
  • galactoside 2-alpha-L-fucosyltransferase