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

Authors

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