National Changhua University of Education Institutional Repository : Item 987654321/11501
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题名: Molecular Characterization of Secretor Typeα(1, 2)-fucosyltransferase Gene Deficiency in the Philippine Population
作者: Peng, C. T.;Tsai, C. H.;Lin, T. P.;Perng, L. I.;Kao, M. C.;Yang, T. Y.;Wang, Nancy M.;Liu, T. C.;Lin, S. F.;Chang, J. G.
贡献者: 生物技術研究所
关键词: Filipino;a(1,2)-fucosyltransferase;Secretor phenotype;Nonsecretor;Mutation analysis
日期: 1999-10
上传时间: 2012-06-06T02:03:44Z
出版者: SpringLink
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 (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.
關聯: Ann. Hematol, 78(10): 463-467
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