| 10例类孟买表型α1,2岩藻糖基转移酶基因序列分析 |
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| 引用本文： | 洪小珍,马开荣,蓝小飞,刘瑛,许先国,朱发明,吕杭军,严力行. 10例类孟买表型α1,2岩藻糖基转移酶基因序列分析[J]. 中国卫生检验杂志, 2011, 0(3): 604-606 |
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| 作者姓名： | 洪小珍 马开荣 蓝小飞 刘瑛 许先国 朱发明 吕杭军 严力行 |
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| 作者单位： | 浙江省血液中心输血研究所卫生部血液安全研究重点实验室; |
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| 基金项目： | 国家自然科学基金(30772065); 浙江省卫生高层次创新人才 |
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| 摘 要： | 目的:分析10例类孟买血型表型的α1,2岩藻糖基转移酶基因序列情况。方法:ABO、H抗原检测采用血清学方法,利用PCR技术扩增FUT1编码区序列,PCR产物双酶切后直接测序分析。杂合子突变标本采用TOPO TA技术分离得到单链。结果:类孟买血型表型红细胞缺乏H抗原,与抗H试剂不凝集。10例标本直接测定FUT1基因编码区序列,3例为第547-552位AG两碱基缺失(CAGAGAG→CAGAG)纯合子,其它7例为有不同突变点的杂合子。单体型分析显示存在235C、293T、547-552delAG、658T、35T+682G、880-882delTT等6种单体型。结论:类孟买血型存在多种分子遗传机制,最常见单体型为547-552delAG。
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| 关 键 词： | 类孟买型 α1,2岩藻糖基转移酶 FUT1基因 |
Sequence analysis of alpha(1,2) fucosyltransferase gene for ten individuals with para-Bombay phenotype |
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| HONG Xiao-zhen,MA Kai-rong,LAN Xiao-fei,LIU Ying,XU Xian-guo,ZHU Fa-ming,LV Hang-jun,YAN Li-xing. Sequence analysis of alpha(1,2) fucosyltransferase gene for ten individuals with para-Bombay phenotype[J]. Chinses Journal of Health Laboratory Technology, 2011, 0(3): 604-606 |
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| Authors: | HONG Xiao-zhen MA Kai-rong LAN Xiao-fei LIU Ying XU Xian-guo ZHU Fa-ming LV Hang-jun YAN Li-xing |
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| Affiliation: | HONG Xiao-zhen,MA Kai-rong,LAN Xiao-fei,LIU Ying,XU Xian-guo,ZHU Fa-ming,LV Hang-jun,YAN Li-xing(Blood Center of Zhejiang Province,Key Laboratory of Blood Safety Research of Ministry of Health,Hangzhou 310006,China) |
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| Abstract: | Objective:To analyze the sequence of alpha(1,2) fucosyltransferase gene(FUT1) for ten individuals with para-Bombay phenotype.Methods:ABO and H antigens were detected by routine serological techniques.The full coding region of FUT1 was amplified by polymerase chain reaction(PCR).The PCR product was purified with enzymes digestion and directly sequenced analysis.The haplotypes were separated from the samples with different mutations by TOPO TA cloning technique.Results:The red blood cells of the para-Bombay p... |
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| Keywords: | Para-Bombay phenotype Alpha(1 2) fucosyltransferase FUT1 gene |
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