Skip to main content
Top
Published in: Annals of Hematology 10/2005

01-10-2005 | Original Article

The fusion allele of the FUT2 (secretor type α(1,2)-fucosyltransferase) gene at a high frequency and a new se 385 allele in a Korean population

Authors: Kyoung Un Park, Junghan Song, Kyou Sup Han, Jin Q. Kim

Published in: Annals of Hematology | Issue 10/2005

Login to get access

Abstract

The fusion gene (se fus ), a nonfunctional allele of the FUT2 [secretor type α(1,2)-fucosyltransferase] gene, was found in Japanese populations with high frequencies (4.8–7.9%). In a study on a Korean population, se fus was found at a very low frequency (0.6%), but it has not yet been revealed in any other ethnic population. The aim of the present study was to investigate FUT2 gene polymorphisms in a Korean population and to evaluate their implications in secretor expression in saliva. We investigated the frequency of the FUT2 alleles in a Korean population via polymerase chain reaction with confronting two-pair primers (PCR-CTPP) and restriction fragment length polymorphism (PCR-RFLP). Blood samples were collected from 348 random donors in Bundang Koreans. From a total of 696 alleles examined, the frequency of the se fus allele in the Korean population was 10.8%. In addition, the new se 385 allele was found in about 7.2% of the subjects, an unusually frequent occurrence compared to any other population investigated so far. The null alleles of the FUT2 gene are another example of rare alleles occurring with unexpectedly high frequencies in distinct geographic regions or populations.
Literature
1.
go back to reference Chang JG, Yang TY, Liu TC, Lin TP, Hu CJ, Kao MC, Wang NM, Tsai FJ, Peng CT, Tsai CH (1999) Molecular analysis of secretor type alpha(1,2)-fucosyltransferase gene mutations in the Chinese and Thai populations. Transfusion 39:1013–1017 Chang JG, Yang TY, Liu TC, Lin TP, Hu CJ, Kao MC, Wang NM, Tsai FJ, Peng CT, Tsai CH (1999) Molecular analysis of secretor type alpha(1,2)-fucosyltransferase gene mutations in the Chinese and Thai populations. Transfusion 39:1013–1017
2.
go back to reference Fernandez-Mateos P, Cailleau A, Henry S, Costache M, Elmgren A, Svensson L, Larson G, Samuelsson BE, Oriol R, Mollicone R (1998) Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups. Vox Sang 75:37–46 Fernandez-Mateos P, Cailleau A, Henry S, Costache M, Elmgren A, Svensson L, Larson G, Samuelsson BE, Oriol R, Mollicone R (1998) Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups. Vox Sang 75:37–46
3.
go back to reference Hamajima N, Saito T, Matsuo K, Tajima K (2002) Competitive amplification and unspecific amplification in polymerase chain reaction with confronting two-pair primers. J Mol Diagnostics 4:103–107 Hamajima N, Saito T, Matsuo K, Tajima K (2002) Competitive amplification and unspecific amplification in polymerase chain reaction with confronting two-pair primers. J Mol Diagnostics 4:103–107
4.
go back to reference Hamajima N, Shibata A, Ikehara Y, Katsuda N, Mori S, Ito H, Matsuo K, Tajima K, Tominaga S (2002) Lack of consistency in the associations of Helicobacter pylori seropositivity with Se and Le polymorphisms among Japanese. Gastric Cancer 5:194–200 Hamajima N, Shibata A, Ikehara Y, Katsuda N, Mori S, Ito H, Matsuo K, Tajima K, Tominaga S (2002) Lack of consistency in the associations of Helicobacter pylori seropositivity with Se and Le polymorphisms among Japanese. Gastric Cancer 5:194–200
5.
go back to reference Kaneko M, Nishihara S, Shinya N, Kudo T, Iwasaki H, Seno T, Okubo Y, Narimatsu H (1997) Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme. Blood 90:839–849 Kaneko M, Nishihara S, Shinya N, Kudo T, Iwasaki H, Seno T, Okubo Y, Narimatsu H (1997) Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme. Blood 90:839–849
6.
go back to reference Kelly RJ, Ernst LK, Larsen RD, Bryant JG, Robinson JS, Lowe JB (1994) Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals. Proc Natl Acad Sci U S A 91:5843–5847 Kelly RJ, Ernst LK, Larsen RD, Bryant JG, Robinson JS, Lowe JB (1994) Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals. Proc Natl Acad Sci U S A 91:5843–5847
7.
go back to reference Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB (1995) Sequence and expression of a candidate for the human secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. J Biol Chem 270:4640–4649 Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB (1995) Sequence and expression of a candidate for the human secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. J Biol Chem 270:4640–4649
8.
go back to reference Koda Y, Soejima M, Johnson PH, Smart E, Kimura H (1997) Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system. Biochem Biophys Res Commun 238:21–25 Koda Y, Soejima M, Johnson PH, Smart E, Kimura H (1997) Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system. Biochem Biophys Res Commun 238:21–25
9.
go back to reference Koda Y, Soejima M, Johnson PH, Smart E, Kimura H (2000) An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype. Hum Genet 106:80–85 Koda Y, Soejima M, Johnson PH, Smart E, Kimura H (2000) An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype. Hum Genet 106:80–85
10.
go back to reference Koda Y, Soejima M, Kimura H (2001) The polymorphisms of fucosyltransferases. Leg Med (Tokyo) 3:2–14 Koda Y, Soejima M, Kimura H (2001) The polymorphisms of fucosyltransferases. Leg Med (Tokyo) 3:2–14
11.
go back to reference Koda Y, Soejima M, Liu Y, Kimura H (1996) Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency. Am J Hum Genet 59:343–350 Koda Y, Soejima M, Liu Y, Kimura H (1996) Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency. Am J Hum Genet 59:343–350
12.
go back to reference Kudo T, Iwasaki H, Nishihara S, Shinya N, Ando T, Narimatsu I, Narimatsu H (1996) Molecular genetic analysis of the human lewis histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals. J Biol Chem 271:9830–9837 Kudo T, Iwasaki H, Nishihara S, Shinya N, Ando T, Narimatsu I, Narimatsu H (1996) Molecular genetic analysis of the human lewis histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals. J Biol Chem 271:9830–9837
13.
go back to reference Liu Y, Koda Y, Soejima M, Pang H, Schlaphoff T, du Toit ED, Kimura H (1998) Extensive polymorphism of the FUT2 gene in an African (Xhosa) population of South Africa. Hum Genet 103:204–210 Liu Y, Koda Y, Soejima M, Pang H, Schlaphoff T, du Toit ED, Kimura H (1998) Extensive polymorphism of the FUT2 gene in an African (Xhosa) population of South Africa. Hum Genet 103:204–210
14.
go back to reference Liu YH, Koda Y, Soejima M, Pang H, Wang BJ, Kim DS, Oh HB, Kimura H (1999) The fusion gene at the ABO-secretor locus (FUT2): absence in Chinese populations. J Hum Genet 44:181–184 Liu YH, Koda Y, Soejima M, Pang H, Wang BJ, Kim DS, Oh HB, Kimura H (1999) The fusion gene at the ABO-secretor locus (FUT2): absence in Chinese populations. J Hum Genet 44:181–184
15.
go back to reference Narimatsu H, Iwasaki H, Nakayama F, Ikehara Y, Kudo T, Nishihara S, Sugano K, Okura H, Fujita S, Hirohashi S (1998) Lewis and secretor gene dosages affect CA19-9 and DU-PAN-2 serum levels in normal individuals and colorectal cancer patients. Cancer Res 58:512–518 Narimatsu H, Iwasaki H, Nakayama F, Ikehara Y, Kudo T, Nishihara S, Sugano K, Okura H, Fujita S, Hirohashi S (1998) Lewis and secretor gene dosages affect CA19-9 and DU-PAN-2 serum levels in normal individuals and colorectal cancer patients. Cancer Res 58:512–518
16.
go back to reference Peng CT, Tsai CH, Lin TP, Perng LI, Kao MC, Yang TY, Wang NM, Liu TC, Lin SF, Chang JG (1999) Molecular characterization of secretor type alpha(1,2)-fucosyltransferase gene deficiency in the Philippine population. Ann Hematol 78:463–467 Peng CT, Tsai CH, Lin TP, Perng LI, Kao MC, Yang TY, Wang NM, Liu TC, Lin SF, Chang JG (1999) Molecular characterization of secretor type alpha(1,2)-fucosyltransferase gene deficiency in the Philippine population. Ann Hematol 78:463–467
17.
go back to reference Rouquier S, Lowe JB, Kelly RJ, Fertitta AL, Lennon GG, Giorgi D (1995) Molecular cloning of a human genomic region containing the H blood group alpha(1,2)fucosyltransferase gene and two H locus-related DNA restriction fragments. Isolation of a candidate for the human secretor blood group locus. J Biol Chem 270:4632–4639 Rouquier S, Lowe JB, Kelly RJ, Fertitta AL, Lennon GG, Giorgi D (1995) Molecular cloning of a human genomic region containing the H blood group alpha(1,2)fucosyltransferase gene and two H locus-related DNA restriction fragments. Isolation of a candidate for the human secretor blood group locus. J Biol Chem 270:4632–4639
18.
go back to reference Serpa J, Mendes N, Reis CA, Santos Silva LF, Almeida R, Le Pendu J, David L (2004) Two new FUT2 (fucosyltransferase 2 gene) missense polymorphisms, 739G→A and 839T→C, are partly responsible for non-secretor status in a Caucasian population from Northern Portugal. Biochem J 383:469–474 Serpa J, Mendes N, Reis CA, Santos Silva LF, Almeida R, Le Pendu J, David L (2004) Two new FUT2 (fucosyltransferase 2 gene) missense polymorphisms, 739G→A and 839T→C, are partly responsible for non-secretor status in a Caucasian population from Northern Portugal. Biochem J 383:469–474
19.
go back to reference Wagner FF, Flegel WA (1997) Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles. Transfusion 37:284–290 Wagner FF, Flegel WA (1997) Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles. Transfusion 37:284–290
Metadata
Title
The fusion allele of the FUT2 (secretor type α(1,2)-fucosyltransferase) gene at a high frequency and a new se 385 allele in a Korean population
Authors
Kyoung Un Park
Junghan Song
Kyou Sup Han
Jin Q. Kim
Publication date
01-10-2005
Publisher
Springer-Verlag
Published in
Annals of Hematology / Issue 10/2005
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-005-1041-5

Other articles of this Issue 10/2005

Annals of Hematology 10/2005 Go to the issue
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine