| 中国汉族人群FUT2基因385位点突变与Lewis表型的相关性 |
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| 引用本文： | 苏宇清,吴国光,魏天莉,梁延连,喻琼,金士正. 中国汉族人群FUT2基因385位点突变与Lewis表型的相关性[J]. 临床输血与检验, 2004, 6(2): 81-83 |
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| 作者姓名： | 苏宇清 吴国光 魏天莉 梁延连 喻琼 金士正 |
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| 作者单位： | 518035,广东省深圳市输血医学研究所;518035,广东省深圳市输血医学研究所;518035,广东省深圳市输血医学研究所;518035,广东省深圳市输血医学研究所;518035,广东省深圳市输血医学研究所;518035,广东省深圳市输血医学研究所 |
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| 基金项目： | 广东省医学科研基金资助 ( No.B2 0 0 2 111) |
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| 摘 要： | 目的 分析中国汉族人群分泌型基因(FUT2)385位点突变与Lewis表型的相关性。方法 对73例中国汉族人进行Lewis血型血清学鉴定。采用SSP法对73例标本的FUT2基因进行385位点突变筛检,并用测序法验证。结果 385T突变发生率为54．79％。个体FUT2基因385T为纯合子且Lewis为阳性时,其Lewis表型为Le(a b )和Le(a b-),Le(a b-)表型占总数的17．8％,Le(a b )占8．2％。结论 FUT2基因A385T的纯合子突变是Le(a b )和Le(a b-)表型的遗传基础。
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| 关 键 词： | FUT2基因 Lewis血型 点突变 SSP |
| 文章编号： | 1671-2587(2004)02-0081-03 |
| 修稿时间： | 2004-01-07 |
Correlation of a missense mutation at nucleotide 385 in Chinese Han population FUT2 gene with the Lewis phenotype |
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| SU Yuqing,WU Guoguang,WEI Tianli,et al.. Correlation of a missense mutation at nucleotide 385 in Chinese Han population FUT2 gene with the Lewis phenotype[J]. Journal of Clinical Transfusion and Laboratory Medicine, 2004, 6(2): 81-83 |
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| Authors: | SU Yuqing WU Guoguang WEI Tianli et al. |
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| Affiliation: | SU Yuqing,WU Guoguang,WEI Tianli,et al.Shenzhen Institute of Transfusion Medicine,Shenzhen 518035 |
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| Abstract: | Objective To analyse the correlation between Lewis phenotype and FUT2 385 mutation in Chinese Han population. Methods 73 Chinese were phenotyped for Le aand Le b,DNA samples were studied by PCR-SSP to distinguish wild type and 385 mutations of FUT2 gene.Direct sequencing was done for controls. Results The frequencies of 385 mutation alleles among 73 Chinese Han individuals were 54.79%,the phenotypes Lewis-positive and homozygous for the mutation were Le(a b ) and Le(a b-), 13 of 73(17.8%) was Le(a b-),6 of 73(8.2%) was Le(a b ) .Conclusion Both Le(a b ) and Le(a b-) have the same genetic basis,A385T mutation in Chinese. |
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| Keywords: | FUT2 gene Lewis Point mutation SSP |
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