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

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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 (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.

Original languageEnglish
Pages (from-to)463-467
Number of pages5
JournalAnnals of Hematology
Volume78
Issue number10
DOIs
Publication statusPublished - 1999 Oct 1

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Philippines
Nonsense Codon
Phenotype
Population
Genes
Mutation
Alleles
Pseudogenes
Gene Fusion
Taiwan
Base Pairing
galactoside 2-alpha-L-fucosyltransferase
Complementary DNA
Chromosomes
Genotype
Enzymes

All Science Journal Classification (ASJC) codes

  • Hematology

Cite this

Peng, C. T., Tsai, C. H., Lin, T. P., Perng, L. I., Kao, M. C., Yang, T. Y., ... 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
Peng, C. T. ; Tsai, C. H. ; Lin, T. P. ; Perng, L. I. ; Kao, M. C. ; Yang, T. Y. ; Wang, Miau-Yaun ; Liu, T. C. ; Lin, S. F. ; Chang, J. G. / Molecular characterization of secretor type α(1,2)-fucosyltransferase gene deficiency in the Philippine population. In: Annals of Hematology. 1999 ; Vol. 78, No. 10. pp. 463-467.
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title = "Molecular characterization of secretor type α(1,2)-fucosyltransferase gene deficiency in the Philippine population",
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 (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.",
author = "Peng, {C. T.} and Tsai, {C. H.} and Lin, {T. P.} and Perng, {L. I.} and Kao, {M. C.} and Yang, {T. Y.} and Miau-Yaun Wang and Liu, {T. C.} and Lin, {S. F.} and Chang, {J. G.}",
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Peng, CT, Tsai, CH, Lin, TP, Perng, LI, Kao, MC, Yang, TY, Wang, M-Y, Liu, TC, Lin, SF & Chang, JG 1999, 'Molecular characterization of secretor type α(1,2)-fucosyltransferase gene deficiency in the Philippine population', Annals of Hematology, vol. 78, no. 10, pp. 463-467. https://doi.org/10.1007/s002770050599

Molecular characterization of secretor type α(1,2)-fucosyltransferase gene deficiency in the Philippine population. / Peng, C. T.; Tsai, C. H.; Lin, T. P.; Perng, L. I.; Kao, M. C.; Yang, T. Y.; Wang, Miau-Yaun; Liu, T. C.; Lin, S. F.; Chang, J. G.

In: Annals of Hematology, Vol. 78, No. 10, 01.10.1999, p. 463-467.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Molecular characterization of secretor type α(1,2)-fucosyltransferase gene deficiency in the Philippine population

AU - Peng, C. T.

AU - Tsai, C. H.

AU - Lin, T. P.

AU - Perng, L. I.

AU - Kao, M. C.

AU - Yang, T. Y.

AU - Wang, Miau-Yaun

AU - Liu, T. C.

AU - Lin, S. F.

AU - Chang, J. G.

PY - 1999/10/1

Y1 - 1999/10/1

N2 - 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.

AB - 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.

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