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, Miau-Yaun Wang, T. C. Liu, S. F. Lin, J. G. Chang

研究成果: Article

25 引文 斯高帕斯(Scopus)

摘要

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 (se6) 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.

原文English
頁(從 - 到)463-467
頁數5
期刊Annals of Hematology
78
發行號10
DOIs
出版狀態Published - 1999 十月 1

All Science Journal Classification (ASJC) codes

  • Hematology

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    Peng, C. T., Tsai, C. H., Lin, T. P., Perng, L. I., Kao, M. C., Yang, T. Y., Wang, M-Y., Liu, T. C., Lin, S. F., & Chang, J. G. (1999). Molecular characterization of secretor type α(1,2)-fucosyltransferase gene deficiency in the Philippine population. Annals of Hematology, 78(10), 463-467. https://doi.org/10.1007/s002770050599