Annals of Hematology

, Volume 78, Issue 10, pp 463–467

Molecular characterization of secretor type α(1,2)-fucosyltransferase gene deficiency in the Philippine population

  • C. T. Peng
  • C. H. Tsai
  • T. P. Lin
  • L. I. Perng
  • M. C. Kao
  • T. Y. Yang
  • N. M. Wang
  • T. C. Liu
  • S. F. Lin
  • J. G. Chang
ORIGINAL ARTICLE

DOI: 10.1007/s002770050599

Cite this article as:
Peng, C., Tsai, C., Lin, T. et al. Ann Hematol (1999) 78: 463. doi:10.1007/s002770050599

Abstract

 We analyzed the seven mutations which are responsible for the deficiency of the secretor type α(1,2)-fucosyltransferase gene product, Se enzyme, in the Philippine population. One hundred and one unrelated Filipinos in Taiwan were studied. A new mutation, a 3-base pair deletion from nt 688 through 690, was found in two (0.1%) of 202 chromosomes. The frequencies of six other mutated alleles were as follows: 71/202 (35.2%) were cDNA 385 A→T missensed mutation (se2), 28/202 (13.9%) were C571T nonsense mutation (se3), 16/202 (7.9%) were G849A nonsense mutation (se4), 4/202 (1.9%) were G428A nonsense mutation (se1), and 81/202 (40.1%) were wild-type allele (Se). No C628T nonsense mutations (se5) or fusion genes of pseudogene and FUT2 gene (se 6) were found in this population. For the molecular basis of phenotype Le(a+ b–): eight cases had se2/se2, six cases had se2/se3, two cases had se3/se4, one case was homozygous of se4, one case was se3/se1, and two cases were se2/se7. For the Le(a+ b+) phenotype: four cases had se2/se2, two cases had se2/se3, one case was se3/se3, and one case was se2/se4. For the Le(a– b+) phenotype: 16 cases were Se/Se, 21 cases were Se/se2, six cases were Se/se3, five cases were Se/se4, and two cases had Se/se1. Our results suggest that the genotypes of the α(1,2)-fucosyltransferase gene in phenotypes Le(a+ b+) and Le(a+ b–) are the same. Other factors that play important roles may cause the differences between these two phenotypes. Several hotspot mutations in the α(1,2)-fucosyltransferase gene are responsible for the nonsecretor phenotype.

Key words Filipinoα(1,2)-fucosyltransferaseSecretor phenotypeNonsecretorMutation analysis

Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • C. T. Peng
    • 1
  • C. H. Tsai
    • 2
  • T. P. Lin
    • 3
  • L. I. Perng
    • 3
  • M. C. Kao
    • 2
  • T. Y. Yang
    • 3
  • N. M. Wang
    • 2
  • T. C. Liu
    • 4
  • S. F. Lin
    • 4
  • J. G. Chang
    • 2
  1. 1.Department of Pediatrics, Division of Molecular Medicine, Department of Medical Research, China Medical College Hospital, 2, Yuh Der Road, Taichung, TaiwanTW
  2. 2.Division of Molecular Medicine, Department of Medical Research, China Medical College Hospital, 2, Yuh Der Road, Taichung, Taiwan Tel.: 00886-4-2052121, ext. 7461, Fax: 00886-4-2033295TW
  3. 3.Department of Molecular Medicine and Blood Bank, Taipei Municipal Jen-Ai Hospital, Taipei, TaiwanTW
  4. 4.Division of Hematology/Oncology, Department of Internal Medicine, Kaohsiung Medical College Hospital, Kaohsiung, TaiwanTW