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

• Tipo: Artigo em Revista Científica Internacional
• Data: 2004

Autores

Serpa, J (Autor) Outra; Mendes, N (Autor) Outra; Celso Reis (Autor) Outra; Santos-Silva F (Autor) Outra; Raquel Almeida (Autor) Outra; Le Pendu, J (Autor) Outra; David L (Autor) FMUP

Revista

Título: Biochemical Journal

Vol. 383

Páginas: 469-474

ISSN: 0264-6021

Editora: PORTLAND PRESS LTD

Indexação

ISI Web of Knowledge - 30 Citações

Scopus - 30 Citações

Outras Informações

ID Authenticus: P-000-7SX

DOI: 10.1042/bj20040803

Abstract (EN): Secretor status is defined by the expression of H type I antigen on gastric surface epithelium and external secretions. The H type I structure, and other fucosylated carbohydrates (Le(a), sialyl-Le(a), Le(b), Le(x), sialyl-Le(x) and Le(y)), can serve as ligands for several pathogens, including Helicobacter pylori, and are cancer-associated antigens. Secretor individuals are more susceptible to some bacterial and viral infections of the genito-urinary and digestive tracts. The aim of the present study was to examine FUT2 (fucosyltransferase 2 gene) polymorphisms in a Caucasian population of non-secretor individuals (n = 36) from northern Portugal and to evaluate the activity of the mutant FUT2 enzymes. The secretor status was determined by UEAI [Ulex europaeus (gorse) lectin] histochemistry in gastric mucosa, and FUT2 polymorphisms were studied by restriction-fragment-length polymorphism and direct sequencing. The majority of non-secretors (88.9%) were homozygous for 428G --> A polymorphism; 5.6% were homozygous for 571C --> T and 5.6% were homozygous for two new missense polymorphisms, 739G --> A (2.8%) and 839T --> C (2.8%). By kinetic studies it was demonstrated that the two new FUT2 mutants (739G --> A and 839T --> C) are almost inactive and are responsible for some non-secretor cases.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 6