Novel mutations, including a novel G659A missense mutation, of the FUT1 gene are responsible for the para-Bombay phenotype

C. F. Sun, M. D. Lo, C. H. Lee, D. C. Chu*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

9 Scopus citations

Abstract

Para-Bombay phenotype, with an estimated incidence of 1 in 8000 in Taiwanese residents based on serological analysis, is caused by aberrant α(1,2)-fucosyltransferase function and hence diminished H-antigen synthesis. In an individual with para-Bombay phenotype, DNA sequencing revealed two missense mutations - a previously reported C658T mutation and a novel G659A mutation. Haplotype analysis with restriction enzyme digestion showed that the two mutations are located on opposing alleles of the H (FUT1) gene and lead to compound heterozygosity. Since no other known genetic changes were evident, it appears that the new missense mutation, G659A, is deleterious to the α(1,2)-fucosyltransferase function encoded by the H (FUT1) gene.

Original languageEnglish
Pages (from-to)387-390
Number of pages4
JournalAnnals of Clinical and Laboratory Science
Volume30
Issue number4
StatePublished - 2000
Externally publishedYes

Keywords

  • DNA analysis
  • FUT1 gene
  • Fucosyltransferase
  • Missense mutation
  • Para-Bombay phenotype

Fingerprint

Dive into the research topics of 'Novel mutations, including a novel G659A missense mutation, of the FUT1 gene are responsible for the para-Bombay phenotype'. Together they form a unique fingerprint.

Cite this