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摘要


Lewis(Le)組織血型含有兩個主要抗原Lea和Leb,它們是由α(1,2)-果糖轉移酶(FUT2)和α(1,3/1,4)-果糖轉移酶(FUT3)所決定。在本研究,我們在101個臺灣人分析其FUT2、FUT3基因之突變並比較其和血清表現型的關係。血清型為Le(a+b-)者在FUT2或FUT3基因至少有一個對偶基因為正常,在Le(a+b-)和Le(a+b+)血清型則FUT2的兩個對偶基因皆為突變而FUT3基因則至少有一個對偶基因正常。Le(a+b-)和Le(a+b+)有相同的基因型。在101個檢體中有20個為Le(a-b-)表現型,它們是由FUT2和/或FUT3基因中至少有一基因的兩個對偶基因皆為突變所形成。大部份(12/20)為單獨由FUT3基因的兩個對偶基因突變造成。三個為FUT2基因的兩個對偶基因突變,而有五個是FUT2和FUT3的兩個對偶基因都發生突變。我們的研究證實了Lewis組織的研究是台灣人族群同時分析FUT2和FUT3基因的第一個報告,我們建議Le血型的基因分析必須同時分析FUT2及FUT3基因。

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並列摘要


The Lewis (Le) histo-blood group system comprises two major antigens, Lea and Leb which are determined by α (1,2)-fucosyltransferase (FUT2) and α (l,3/1,4)-fucosyltransferase (FUT3). In this study, we analyzed the mutations of FUT2 and FUT3 genes in 101 Taiwanese by molecular biology method and compared them with their serologic phenotypes to explore their relationship. There is at least one wild allele of FUT2 and FUT3 genes in phenotype of Le (a-b+). The phenotypes of Le (a+b-) and Le (a+b+) are caused by mutations of both alleles of FUT2 gene and at least one wild allele of FUT3 gene. The genotypes of Le (a+b-) and Le (a+b+) are the same. Twenty cases are phenotype of Le (a-b-), which are caused by mutations of both alleles of FUT 2 gene and/or FUT 3 gene. Twelve cases were caused by both alleles mutations of FUT 3 gene only, while three cases were caused by mutations of both alleles of FUT2 gene and the rest of the cases were caused by mutations of both alleles of FUT2 and FUT 3 genes. Our findings confirm that the Le histo-blood group is determined by the interaction of FUT 2 and FUT 3 genes. Our report is the first study of FUT 2 gene and FUT 3 gene in a Taiwanese population. We suggest that the genetic analysis of Le blood group should include FUT 2 and FUT 3 genes together.

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