[Home ] [Archive]   [ فارسی ]  
:: Main :: About us :: Current Issue :: Archive :: Search :: Submit :: Contact ::
:: Volume 17, Issue 3 (Autumn 2020) ::
Sci J Iran Blood Transfus Organ 2020, 17(3): 171-178 Back to browse issues page
Determination of fucosyltransferase 3 gene polymorphisms frequency in Iranian blood donors
M. Naseri Rad, A. Mardani, A.A. Naghi, M. Shahabi
Keywords: Key words: SNPs, Haplotypes, Alleles
Full-Text [PDF 516 kb]   (399 Downloads)     |   Abstract (HTML)  (1487 Views)
Type of Study: Research | Subject: Imunohematology
Published: 2020/10/1
Full-Text:   (500 Views)
  1. Raud L, Férec C, Fichou Y. From genetic variability to phenotypic expression of blood group systems. Transfus Clin Biol 2017; 24(4): 472-5.
  2. Daniels G. Human Blood Groups. USA: John Wiley & Sons; 2013. p. 57-63.
  3. Shanthi B, Babu K. Analysis of ABO group discrepancies in a tertiary care centre south india. J Evol Med Dent Sci 2017; 6(79): 5615-8.
  4. Soejima M, Munkhtulga L, Iwamoto S, Koda Y. Genetic variation of FUT3 in Ghanaians, Caucasians, and Mongolians. Transfusion 2009; 49(5): 959-66.
  5. Corvelo TC, de Loiola Rdo S, Aguiar DC, de Matos Gde C, et al. The Lewis histo-blood group system: molecular analysis of the 59T> G, 508G> A, and 1067T> A polymorphisms in an Amazonian population. PLoS One 2013; 8(7): e69908.
  6. Vestergaard EM, Hein HO, Meyer H, Grunnet N, Jørgensen J, Wolf H, et al. Reference values and biological variation for tumor marker CA 19-9 in serum for different Lewis and secretor genotypes and evaluation of secretor and Lewis genotyping in a Caucasian population. Clin Chem 1999; 45(1): 54-61.
  7. Yazawa S, Nishihara S, Iwasaki H, Asao T, Nagamachi Y, Matta KL, et al. Genetic and enzymatic evidence for Lewis enzyme expression in Lewis-negative cancer patients. Cancer Res 1995; 55(7): 1473-8.
  8. Grubb R, Morgan W. The “Lewis” blood group
characters of erythrocytes and body-fluids. Br J Exp Pathol 1949; 30(3): 198-208
  1. Nishihara S, Narimatsu H, Iwasaki H, Yazawa S, Akamatsu S, Ando T, et al. Molecular genetic analysis of the human Lewis histo-blood group system. J Biol Chem 1994; 269(46): 29271-8
  2. Soejima, M. and Y. Koda, Molecular mechanisms of Lewis antigen expression. Leg Med (Tokyo) 2005; 7(4): 266-9.
  3. Previato M, Borim MP, Liberatore RD Jr, Pires AC, Dias MA, Brandão de Mattos CC, et al., Lewis histo-blood group system phenotyping and genotyping reveal divergence in the association of Le (a− b−) phenotype and type 1 diabetes. Vox Sang 2015; 108(3): 281-6.
  4. Grahn A, Elmgren A, Aberg L, Svensson L, Jansson PA, Lönnroth P, et al. Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples. Hum Mutat 2001; 18(4): 358-9.
  5. Mollicone R, Reguigne I, Kelly RJ, Fletcher A, Watt J, Chatfield S, et al. Molecular basis for Lewis alpha (1, 3/1, 4)-fucosyltransferase gene deficiency (FUT3) found in Lewis-negative Indonesian pedigrees. J Biol Chem 1994; 269(33): 20987-94.
  6. Elmgren A, Börjeson C, Svensson L, Rydberg L, Larson G. DNA sequencing and screening for point mutations in the human Lewis (FUT3) gene enables
    molecular genotyping of the human Lewis blood group system. Vox Sang 1996; 70(2): 97-103.
  7. Elmgren A, Mollicone R, Costache M, Börjeson C, Oriol R, Harrington J, et al. Significance of individual point mutations, T202C and C314T, in the human Lewis (FUT3) gene for expression of Lewis antigens by the human α (1, 3/1, 4)-fucosyltransferase, Fuc-TIII. J Biol Chem 1997; 272(35): 21994-8
  8. Matzhold EM, Helmberg W, Wagner T, Drexler C, Ulrich S, Winkler A, et al. Identification of 14 new alleles at the fucosyltransferase 1, 2, and 3 loci in Styrian blood donors, Austria. Transfusion 2009; 49(10): 2097-2108.
  9. Brandão de Mattos CC, de Mattos LC. Histo-blood group carbohydrates as facilitators for infection by Helicobacter pylori. Infect Genet Evol. 2017;53:167‐174.
  10. Pérez-Ortín R, Vila-Vicent S, Carmona-Vicente N, Santiso-Bellón C, Rodríguez-Díaz J, Buesa J. Histo-Blood Group Antigens in Children with Symptomatic Rotavirus Infection. Viruses 2019; 11(4): 339.
  11. Stowell CP, Stowell SR. Biologic roles of the ABH and Lewis histo-blood group antigens Part I: infection and immunity. Vox Sang 2019; 114(5): 426-42.
  12. Stowell SR, Stowell CP. Biologic roles of the ABH and Lewis histo-blood group antigens part II: thrombosis, cardiovascular disease and metabolism. Vox Sang 2019; 114(6): 535-52.

Sci J Iran Blood Transfus Organ 2020;17 (3): 171-178
Original Article


Determination of fucosyltransferase 3 (FUT3) gene polymorphisms frequency in Iranian blood donors
Naseri Rad M.1, Mardani A.1, Naghi A.A.1, Shahabi M.1
1Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
Background and Objectives
The FUT3 gene regulates the expression of Lewis blood group antigens mainly Lea and Leb. The Lewis negative phenotype, is the result of an inactivated FUT3 enzyme that lacks glycosidase activity. Several single nucleotide polymorphisms (SNPs) may cause enzyme inactivation with different racial distribution. This study aimed to determine the frequency of these SNPs in Iranian blood donors.
Materials and Methods
In this cross sectional descriptive study, one hundred blood donors from Tehran Blood Transfusion Center were analyzed. Genomic DNA was extracted and the coding sequence of FUT3 gene was amplified with specific primers. PCR products were directly sequenced. Haplotypes were inferred by SNP Analyzer software.
A total of 15 SNPs including 10 nonsense SNPs were recognized. The frequency of most common SNPs was detected as 39%(202T>C), 37%(314C>T), 20%(59T>G), 9%(508G>A), and 8%(47G>C). Haplotype analysis revealed 13 haplotypes. The frequency of major haplotypes was detected as 66.2%(Le), 17.5%(le202,314), 4.3 %(le47,202,314), 4.1 %(le59), and 3.4%(le59,508).
Our findings indicate that 202T > C, 59T > G and 508G > A are useful as major SNPs for detection of Lewis-negative alleles in genotyping of Lewis blood groups; they can also play an effective role in large-scale studies associated with diseases in our population.
Key words: SNPs, Haplotypes, Alleles
Received:   8  Oct 2019
Accepted: 24 Jun 2020

Correspondence: Shahabi M., PhD of Biological Science. Assistant professor of Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine.
P.O.Box: 14665-1157, Tehran, Iran. Tel: (+9821) 88601558; Fax: (+9821) 88601542
E-mail: majshahabi@yahoo.com
Send email to the article author

Add your comments about this article
Your username or Email:


XML   Persian Abstract   Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Naseri Rad M, Mardani A, Naghi A, Shahabi M. Determination of fucosyltransferase 3 gene polymorphisms frequency in Iranian blood donors. Sci J Iran Blood Transfus Organ. 2020; 17 (3) :171-178
URL: http://bloodjournal.ir/article-1-1311-en.html

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Volume 17, Issue 3 (Autumn 2020) Back to browse issues page
فصلنامه پژوهشی خون Scientific Journal of Iran Blood Transfus Organ
The Scientific Journal of Iranian Blood Transfusion Organization - Copyright 2006 by IBTO
Persian site map - English site map - Created in 0.05 seconds with 31 queries by YEKTAWEB 4341