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研究发现一种由基因突变引起的罕见儿童疾病病因
作者:未知 来源:新华网 日期:[2010/12/10 17:05:15]
        丹麦和美国研究人员发现一种由基因突变引起的罕见儿童疾病的致病原因。这一发现有助于及时了解患者病情,及早采取预防措施。

  据丹麦媒体12日报道,丹麦已发现两名患这种罕见疾病的孩子,他们的症状是身体的某些部位血管扩张,另一些部位的血管收缩。例如,心脏、膀胱和胆囊附近的血管扩张,而脑血管出现收缩。脑血管收缩导致患者大脑无法得到充足的氧,从而引发瘫痪,甚至死亡。

  丹麦奥胡斯大学医院的约翰·厄斯特高教授从美国学术刊物上获悉,具有上述症状者的家庭成员中也有血管异常扩张或收缩症状。他联系了美国研究人员,将丹麦的这两名患儿及其父母的基因样本送到美国检测。经对比发现,这两名丹麦患儿的ACTA2基因都发生了突变,而这种基因突变将影响身体肌肉的正常收缩能力,进而影响血管的扩张和收缩。

  厄斯特高说:“这是一种遗传基因重组导致的罕见疾病,目前还没有命名。在美国已经确诊了7例这种病,在英国也发现了2例。”
 

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