| 蓝色橡皮疱痣综合征与TIE2基因突变的关系 |
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| 引用本文： | 霍继荣,王赛,夏昆,夏家辉. 蓝色橡皮疱痣综合征与TIE2基因突变的关系[J]. 医学临床研究, 2009, 26(9): 1577-1579,1582 |
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| 作者姓名： | 霍继荣 王赛 夏昆 夏家辉 |
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| 作者单位： | 中南大学湘雅二医院消化科,湖南,长沙,410011;中南大学中国医学遗传学国家重点实验室,湖南,长沙,410000 |
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| 摘 要： | 【目的】探讨蓝色橡皮疱痣综合征（BRBNS）TIE2基因突变的关系。【方法】收集散发性BRBNS患者，采用PCR扩增和直接测序法，对其第9号染色体TIE2基因外显子进行测序。【结果】3例散发性BRBNS的TIE2基因检测，其中l例发现其TIE2基因的3号外显子79bp处存在C591T的杂合性碱基改变，对照正常人的TIE2，提示C591T的杂合性碱基改变为单核苷酸多态（SNP）；除C591T之外，在3例患者中未发现其他TIE2编码区突变。【结论】散发性BRBNS可能与TIE2基因突变无关。
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| 关 键 词： | 血管发育异常 血管瘤 综合征 突变 |
Relation Between Blue Rubber Bleb Nevus Syndrome (BRBNS) and TIE2 Gene Mutation |
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| Affiliation: | HUO Jirong , WANG Sai , XIA Kun ,et al (Department of Gastroenterology, Second Xiangya Hospital, Central South University, Ckangsha 410011, China ) |
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| Abstract: | [Objeetive] To explore the relationship between blue rubber bleb nevus syndrome （BRBNS） and TIE2 gene mutation. [Methods] TIE2 gene was measured and analyzed in 3 sporadic patients with BRBNS by PCR and every exon of TIE2 had been sequenced. [Results] As compared with the normal person, a heter- ozygous samesense mutation （C591T）in exon3 of TIE2 gene in one patient among 3 sporadic patients. It sug- gested that the mutation was a single nucleotide polymorphism （SNP） of TIE2. Besides C591T, no another TIE2 gene mutation in coding region was detected in these 3 patients. [Conclusion] Sporadic BRBNS may be not related with TIE2 gene mutation. |
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| Keywords: | angiodysplasia hemangioma syndrome mutation |
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