Susumu Tanaka, S. Yazawa, Kasumi Noguchi, T. Nishimura, K. Miyanaga, N. Kochibe, D. Poland, W. van Dijk, K. Matta
{"title":"Molecular Analysis of Plasma α1,3-Fucosyltransferase Deficiency and Development of the Methods for Its Genotyping","authors":"Susumu Tanaka, S. Yazawa, Kasumi Noguchi, T. Nishimura, K. Miyanaga, N. Kochibe, D. Poland, W. van Dijk, K. Matta","doi":"10.1159/000049082","DOIUrl":null,"url":null,"abstract":"Four patients with mental illness were found to be deficient in plasma α1,3-fucosyltransferase for the first time in Japan [Exp Clin Immunogenet 1999;16:125–130]. Complete sequencing of FUT6 genes in these individuals revealed the presence of two point mutations, i.e., G739 to A (Glu→247 to Lys) and C945 to A (Tyr→315 to stop). In addition to two reported alleles having G739 to A (pf1) and G739 to A and C945 to A (pf3), a new mutated allele having C945 to A (pf2) was found to be present and all the individuals who lack α1,3-fucosyltransferase activity in plasma were found to possess pf genes homozygously (pf/pf). In order to detect such lethal mutations in FUT6 genes easily, PCR-RFLP methods have also been developed and applied for the screening of FUT6 deficiency in a large number of samples which resulted in the demonstration of three additional FUT6-deficient individuals. The absence of α1,3-fucosylated molecules on α1-acid glycoprotein in plasma from all the 7 individuals was confirmed to result from the plasma α1,3-fucosyltransferase deficiency.","PeriodicalId":77124,"journal":{"name":"Experimental and clinical immunogenetics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000049082","citationCount":"12","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Experimental and clinical immunogenetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000049082","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 12
Abstract
Four patients with mental illness were found to be deficient in plasma α1,3-fucosyltransferase for the first time in Japan [Exp Clin Immunogenet 1999;16:125–130]. Complete sequencing of FUT6 genes in these individuals revealed the presence of two point mutations, i.e., G739 to A (Glu→247 to Lys) and C945 to A (Tyr→315 to stop). In addition to two reported alleles having G739 to A (pf1) and G739 to A and C945 to A (pf3), a new mutated allele having C945 to A (pf2) was found to be present and all the individuals who lack α1,3-fucosyltransferase activity in plasma were found to possess pf genes homozygously (pf/pf). In order to detect such lethal mutations in FUT6 genes easily, PCR-RFLP methods have also been developed and applied for the screening of FUT6 deficiency in a large number of samples which resulted in the demonstration of three additional FUT6-deficient individuals. The absence of α1,3-fucosylated molecules on α1-acid glycoprotein in plasma from all the 7 individuals was confirmed to result from the plasma α1,3-fucosyltransferase deficiency.
日本首次发现4例精神疾病患者血浆α1,3- focusyltransferase缺乏[Exp clinclinimmunogenet 1999; 16:25 - 130]。对这些个体的FUT6基因进行全测序,发现存在G739 to A (Glu→247 to Lys)和C945 to A (Tyr→315 to stop)两个点突变。除已报道的两个G739 to A (pf1)和G739 to A和C945 to A (pf3)等位基因外,还发现了一个新的突变等位基因C945 to A (pf2),所有缺乏α1,3- focusyltransferase活性的个体均发现具有pf基因纯合(pf/pf)。为了方便检测FUT6基因的这种致命突变,PCR-RFLP方法也被开发出来,并应用于大量样本中筛选FUT6缺陷,结果又发现了3例FUT6缺陷个体。7例患者血浆中α1-酸糖蛋白上α1,3-聚焦分子缺失,证实是血浆α1,3-聚焦转移酶缺乏所致。