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日本人群中Lewis阴性基因突变的PCR分析及Lewis等位基因的分布

PCR analysis of Lewis-negative gene mutations and the distribution of Lewis alleles in a Japanese population.

作者信息

Liu Y, Koda Y, Soejima M, Uchida N, Kimura H

机构信息

Department of Legal Medicine, Kurume University School of Medicine, Japan.

出版信息

J Forensic Sci. 1996 Nov;41(6):1018-21.

PMID:8914289
Abstract

Three mutations in the Lewis-negative gene, T59G, G508A and T1067A, have been detected by means of a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 149 unrelated Japanese individuals. We found three common Lewis alleles-Le (without the T59G, G508A, and T1067A mutations), le1 (with the T59G and G508A mutations), and le2 (with the T59G and T1067A mutations) in a Japanese population. In addition, we also found one rare Lewis-negative allele, le3 (only with the T1067A mutation). The allele frequencies of Le, le1, le2, and le3 were 0.607, 0.275, 0.114, and 0.003, respectively. Our results were in accordance with those expected by the Hardy-Weinberg equilibrium. Some statistical parameters of forensic interest were also calculated.

摘要

通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,在149名无亲缘关系的日本个体中检测到了Lewis阴性基因的三个突变,即T59G、G508A和T1067A。我们在日本人群中发现了三个常见的Lewis等位基因——Le(无T59G、G508A和T1067A突变)、le1(有T59G和G508A突变)和le2(有T59G和T1067A突变)。此外,我们还发现了一个罕见的Lewis阴性等位基因le3(仅含T1067A突变)。Le、le1、le2和le3的等位基因频率分别为0.607、0.275、0.114和0.003。我们的结果符合哈迪-温伯格平衡预期。还计算了一些法医学相关的统计参数。

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PCR analysis of Lewis-negative gene mutations and the distribution of Lewis alleles in a Japanese population.日本人群中Lewis阴性基因突变的PCR分析及Lewis等位基因的分布
J Forensic Sci. 1996 Nov;41(6):1018-21.
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引用本文的文献

1
Significance of Lewis phenotyping using saliva and gastric tissue: comparison with the Lewis phenotype inferred from Lewis and secretor genotypes.利用唾液和胃组织进行Lewis血型分型的意义:与根据Lewis和分泌型基因型推断出的Lewis血型进行比较。
Biomed Res Int. 2014;2014:573652. doi: 10.1155/2014/573652. Epub 2014 Mar 24.
2
Significance of each of three missense mutations, G484A, G667A, and G808A, present in an inactive allele of the human Lewis gene (FUT3) for alpha(1,3/1,4)fucosyltransferase inactivation.人类Lewis基因(FUT3)的一个无活性等位基因中存在的三个错义突变G484A、G667A和G808A,对于α(1,3/1,4)岩藻糖基转移酶失活的各自意义。
Glycoconj J. 1998 Oct;15(10):961-7. doi: 10.1023/a:1006981724233.