| 类孟买型的FUT1和FUT2等位基因突变的分析 |
| |
| 引用本文： | 苏宇清,吴国光,魏天莉,喻琼,梁延连,黄文华.类孟买型的FUT1和FUT2等位基因突变的分析[J].中国输血杂志,2005,18(3):192-193. |
| |
| 作者姓名： | 苏宇清 吴国光 魏天莉 喻琼 梁延连 黄文华 |
| |
| 作者单位： | 1. 深圳市输血医学研究所,广东,深圳,518035
2. 福州市中心血站 |
| |
| 摘 要： | 目的分析类孟买型个体的FUT1和FUT2位点基因突变的分子生物学基础。方法采用PCR扩增产物直接测序法,对2例类孟买型个体的FUT1和FUT2位点的等位基因进行序列检测。结果1例类孟买型个体FUT1位点547～552位的3个重复连续的AG中缺失1个AG,使得氨基酸序列发生182框码移位;另1例FUT1位点880～882位3个重复连续的T中缺失2个T,使得氨基酸序列发生294框码移位,而2例类孟买型的FUT2位点均为正常野生型。结论FUT1位点的移码突变是导致H抗原缺乏,形成类孟买型的原因之一。
|
| 关 键 词： | 血型/类孟买型 FUT1 FUT2 移码突变 测序 |
| 文章编号： | 1004-549X(2005)03-0192-02 |
| 修稿时间： | 2004年3月29日 |
Mutational analysis of FUT1 and FUT2 genes in para-Bombay individuals |
| |
| SU Yuqing,WU Guoguang,WEI TianLi,YU Quong,LIANG Yanlian,Huang Wenhua.Mutational analysis of FUT1 and FUT2 genes in para-Bombay individuals[J].Chinese Journal of Blood Transfusion,2005,18(3):192-193. |
| |
| Authors: | SU Yuqing WU Guoguang WEI TianLi YU Quong LIANG Yanlian Huang Wenhua |
| |
| Institution: | SU Yuqing,WU Guoguang,WEI TianLi,YU Quong,LIANG Yanlian,HUANG Wenhua.Shenzhen Institute of Transfusion Medicine,Shenzhen 518035,China |
| |
| Abstract: | Objective To study the mutation of FUT1 and FUT2 genes in para-Bombay individual.Methods Direct DNA sequencing of FUT1 and FUT2 gene coding region were analyzed in two individuals with para-Bombay phenotype.Results One individual lost one of the three AG repeats located at nucleotides 547~552 of the FUT1 gene, whereas two of the three T repeats located at nucleotides 880~882 were deleted in the other.Conclusion Two frame-shift mutations of FUT1 gene are responsible for the H antigen deficiency |
| |
| Keywords: | Para-Bombay FUT1 gene FUT2 gene Frame-shift mutation |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ |
|
