Molecular analysis of secretor type α(1,2)-fucosyltransferase gene mutations in the Chinese and Thai populations

Jan Gowth Chang, T. Y. Yang, T. C. Liu, T. P. Lin, C. J. Hu, M. C. Kao, Miau-Yaun Wang, F. J. Tsai, C. T. Peng, C. H. Tsai

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Abstract

BACKGROUND: The human Lewis histo-blood group system belongs to a family of structurally related oligosaccharides. The mutations of fucosyltransferase genes α(1,2)-fucosyltransferase (FUT2 or Se) and α(1,3/1,4)- fucosyltransferase (FUT3 or Le), are responsible for the polymorphism of Lewis blood group phenotypes. However, a population study of the FUT2 mutation in Chinese and Thais has not yet been done, and there is some controversy about the phenotypes of Le(a+b+) and Le(a+b-). STUDY DESIGN AND METHODS: One hundred twenty-four Chinese and 70 Thais were phenotyped for Lea and Leb. DNA samples were studied by polymerase chain reaction and then by a restriction enzyme digestion method to distinguish wild-type and six known mutations. Direct sequencing was done for controls and some uncertain cases. RESULTS: A new mutation, C302T mutation, was found in 2 of 136 chromosomes in the Thai population; none were discovered in Chinese. The frequencies of the normal and six mutant alleles among Chinese and Thais, respectively, were as follows: 134 (54.0%) of 248 and 58 (41.4%) of 140 were wild-type (Se); 0 of 248 and 2 of 140 (both 1.4%) had the G428A mutation; 120 (48.4%) of 248 and 75 (53.6%) of 140 had the A385T mutation; 2 (0.81%) of 248 and 0 of 140 had the C571T mutation; and 1 (0.4%) of 248 and 3 (2.2%) of 140 had the G849A mutation. Only 1 Chinese (0.4%) of 248 had the C628T mutation, and none had fusion gene mutation. CONCLUSION: The FUT2 genes encoding for the phenotypes Le(a+b+) and Le(a+b-) are the same. The function and character of the mutant enzyme may play an important role in the phenotype. The methods used in this study are clinically applicable in population studies of the FUT2 gene polymorphism to explore relationships among different ethnic groups and correlations between phenotype and genotype.

Original languageEnglish
Pages (from-to)1013-1017
Number of pages5
JournalTransfusion
Volume39
Issue number9
DOIs
Publication statusPublished - 1999 Sep 28

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Mutation
Population
Genes
Phenotype
galactoside 2-alpha-L-fucosyltransferase
Lewis Blood-Group System
Chromosomes, Human, Pair 2
Gene Fusion
Genetic Association Studies
Enzymes
Blood Group Antigens
Oligosaccharides
Ethnic Groups
Digestion
Alleles
Polymerase Chain Reaction
DNA

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology
  • Hematology

Cite this

Chang, J. G., Yang, T. Y., Liu, T. C., Lin, T. P., Hu, C. J., Kao, M. C., ... Tsai, C. H. (1999). Molecular analysis of secretor type α(1,2)-fucosyltransferase gene mutations in the Chinese and Thai populations. Transfusion, 39(9), 1013-1017. https://doi.org/10.1046/j.1537-2995.1999.39091013.x
Chang, Jan Gowth ; Yang, T. Y. ; Liu, T. C. ; Lin, T. P. ; Hu, C. J. ; Kao, M. C. ; Wang, Miau-Yaun ; Tsai, F. J. ; Peng, C. T. ; Tsai, C. H. / Molecular analysis of secretor type α(1,2)-fucosyltransferase gene mutations in the Chinese and Thai populations. In: Transfusion. 1999 ; Vol. 39, No. 9. pp. 1013-1017.
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title = "Molecular analysis of secretor type α(1,2)-fucosyltransferase gene mutations in the Chinese and Thai populations",
abstract = "BACKGROUND: The human Lewis histo-blood group system belongs to a family of structurally related oligosaccharides. The mutations of fucosyltransferase genes α(1,2)-fucosyltransferase (FUT2 or Se) and α(1,3/1,4)- fucosyltransferase (FUT3 or Le), are responsible for the polymorphism of Lewis blood group phenotypes. However, a population study of the FUT2 mutation in Chinese and Thais has not yet been done, and there is some controversy about the phenotypes of Le(a+b+) and Le(a+b-). STUDY DESIGN AND METHODS: One hundred twenty-four Chinese and 70 Thais were phenotyped for Lea and Leb. DNA samples were studied by polymerase chain reaction and then by a restriction enzyme digestion method to distinguish wild-type and six known mutations. Direct sequencing was done for controls and some uncertain cases. RESULTS: A new mutation, C302T mutation, was found in 2 of 136 chromosomes in the Thai population; none were discovered in Chinese. The frequencies of the normal and six mutant alleles among Chinese and Thais, respectively, were as follows: 134 (54.0{\%}) of 248 and 58 (41.4{\%}) of 140 were wild-type (Se); 0 of 248 and 2 of 140 (both 1.4{\%}) had the G428A mutation; 120 (48.4{\%}) of 248 and 75 (53.6{\%}) of 140 had the A385T mutation; 2 (0.81{\%}) of 248 and 0 of 140 had the C571T mutation; and 1 (0.4{\%}) of 248 and 3 (2.2{\%}) of 140 had the G849A mutation. Only 1 Chinese (0.4{\%}) of 248 had the C628T mutation, and none had fusion gene mutation. CONCLUSION: The FUT2 genes encoding for the phenotypes Le(a+b+) and Le(a+b-) are the same. The function and character of the mutant enzyme may play an important role in the phenotype. The methods used in this study are clinically applicable in population studies of the FUT2 gene polymorphism to explore relationships among different ethnic groups and correlations between phenotype and genotype.",
author = "Chang, {Jan Gowth} and Yang, {T. Y.} and Liu, {T. C.} and Lin, {T. P.} and Hu, {C. J.} and Kao, {M. C.} and Miau-Yaun Wang and Tsai, {F. J.} and Peng, {C. T.} and Tsai, {C. H.}",
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Chang, JG, Yang, TY, Liu, TC, Lin, TP, Hu, CJ, Kao, MC, Wang, M-Y, Tsai, FJ, Peng, CT & Tsai, CH 1999, 'Molecular analysis of secretor type α(1,2)-fucosyltransferase gene mutations in the Chinese and Thai populations', Transfusion, vol. 39, no. 9, pp. 1013-1017. https://doi.org/10.1046/j.1537-2995.1999.39091013.x

Molecular analysis of secretor type α(1,2)-fucosyltransferase gene mutations in the Chinese and Thai populations. / Chang, Jan Gowth; Yang, T. Y.; Liu, T. C.; Lin, T. P.; Hu, C. J.; Kao, M. C.; Wang, Miau-Yaun; Tsai, F. J.; Peng, C. T.; Tsai, C. H.

In: Transfusion, Vol. 39, No. 9, 28.09.1999, p. 1013-1017.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Molecular analysis of secretor type α(1,2)-fucosyltransferase gene mutations in the Chinese and Thai populations

AU - Chang, Jan Gowth

AU - Yang, T. Y.

AU - Liu, T. C.

AU - Lin, T. P.

AU - Hu, C. J.

AU - Kao, M. C.

AU - Wang, Miau-Yaun

AU - Tsai, F. J.

AU - Peng, C. T.

AU - Tsai, C. H.

PY - 1999/9/28

Y1 - 1999/9/28

N2 - BACKGROUND: The human Lewis histo-blood group system belongs to a family of structurally related oligosaccharides. The mutations of fucosyltransferase genes α(1,2)-fucosyltransferase (FUT2 or Se) and α(1,3/1,4)- fucosyltransferase (FUT3 or Le), are responsible for the polymorphism of Lewis blood group phenotypes. However, a population study of the FUT2 mutation in Chinese and Thais has not yet been done, and there is some controversy about the phenotypes of Le(a+b+) and Le(a+b-). STUDY DESIGN AND METHODS: One hundred twenty-four Chinese and 70 Thais were phenotyped for Lea and Leb. DNA samples were studied by polymerase chain reaction and then by a restriction enzyme digestion method to distinguish wild-type and six known mutations. Direct sequencing was done for controls and some uncertain cases. RESULTS: A new mutation, C302T mutation, was found in 2 of 136 chromosomes in the Thai population; none were discovered in Chinese. The frequencies of the normal and six mutant alleles among Chinese and Thais, respectively, were as follows: 134 (54.0%) of 248 and 58 (41.4%) of 140 were wild-type (Se); 0 of 248 and 2 of 140 (both 1.4%) had the G428A mutation; 120 (48.4%) of 248 and 75 (53.6%) of 140 had the A385T mutation; 2 (0.81%) of 248 and 0 of 140 had the C571T mutation; and 1 (0.4%) of 248 and 3 (2.2%) of 140 had the G849A mutation. Only 1 Chinese (0.4%) of 248 had the C628T mutation, and none had fusion gene mutation. CONCLUSION: The FUT2 genes encoding for the phenotypes Le(a+b+) and Le(a+b-) are the same. The function and character of the mutant enzyme may play an important role in the phenotype. The methods used in this study are clinically applicable in population studies of the FUT2 gene polymorphism to explore relationships among different ethnic groups and correlations between phenotype and genotype.

AB - BACKGROUND: The human Lewis histo-blood group system belongs to a family of structurally related oligosaccharides. The mutations of fucosyltransferase genes α(1,2)-fucosyltransferase (FUT2 or Se) and α(1,3/1,4)- fucosyltransferase (FUT3 or Le), are responsible for the polymorphism of Lewis blood group phenotypes. However, a population study of the FUT2 mutation in Chinese and Thais has not yet been done, and there is some controversy about the phenotypes of Le(a+b+) and Le(a+b-). STUDY DESIGN AND METHODS: One hundred twenty-four Chinese and 70 Thais were phenotyped for Lea and Leb. DNA samples were studied by polymerase chain reaction and then by a restriction enzyme digestion method to distinguish wild-type and six known mutations. Direct sequencing was done for controls and some uncertain cases. RESULTS: A new mutation, C302T mutation, was found in 2 of 136 chromosomes in the Thai population; none were discovered in Chinese. The frequencies of the normal and six mutant alleles among Chinese and Thais, respectively, were as follows: 134 (54.0%) of 248 and 58 (41.4%) of 140 were wild-type (Se); 0 of 248 and 2 of 140 (both 1.4%) had the G428A mutation; 120 (48.4%) of 248 and 75 (53.6%) of 140 had the A385T mutation; 2 (0.81%) of 248 and 0 of 140 had the C571T mutation; and 1 (0.4%) of 248 and 3 (2.2%) of 140 had the G849A mutation. Only 1 Chinese (0.4%) of 248 had the C628T mutation, and none had fusion gene mutation. CONCLUSION: The FUT2 genes encoding for the phenotypes Le(a+b+) and Le(a+b-) are the same. The function and character of the mutant enzyme may play an important role in the phenotype. The methods used in this study are clinically applicable in population studies of the FUT2 gene polymorphism to explore relationships among different ethnic groups and correlations between phenotype and genotype.

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