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
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
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DOI：
10.1042/bj20040803
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发表时间：
2004-11-01
影响因子：
4.1
通讯作者：
David, L
中科院分区：
文献类型：
--
作者：
Serpa, J;Mendes, N;David, L
分泌状态由胃表面上皮和外分泌物上H I型抗原的表达来定义。H I型结构和其他岩藻糖基化碳水化合物（Le（a）、唾液酸-Le（a）、Le（B）、Le（x）、唾液酸-Le（x）和Le（y））可以作为几种病原体（包括幽门螺杆菌）的配体，并且是癌症相关抗原。分泌型个体更容易受到生殖泌尿道和消化道的一些细菌和病毒感染。本研究的目的是检查FUT 2（岩藻糖基转移酶2基因）多态性在一个高加索人口的非分泌型个体（n = 36）从北方葡萄牙和评估的突变FUT 2酶的活性。用UEAI [荆豆凝集素]组织化学方法检测胃粘膜中的分泌状态，用限制性片段长度多态性和直接测序方法研究FUT 2多态性。大多数非分泌型（88.9%）为428 G--> A多态性纯合子，5.6%为571 C--> T纯合子，5.6%为两个新的错义多态性纯合子，739 G--> A（2.8%）和839 T--> C（2.8%）。通过动力学研究，证明了两个新的FUT 2突变体（739 G-> A和839 T-> C）几乎是无活性的，并且负责一些非分泌型病例。
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.