【网学提醒】：本文主要为网上学习者提供家族性肥厚型心肌病责任基因的定位和致病机制，希望对需要家族性肥厚型心肌病责任基因的定位和致病机制网友有所帮助，学习一下吧!
资料包括： 论文(4页3690字)
说明：
摘 要 家族性肥厚型心肌病是常染色体显性遗传性疾病，单一责任等位基因突变即可致病。近十年来使用微卫星基因标记技术，在该病家系中发现了7种致病责任基因，致病机制有“肽类毒剂”和“无效等位基因”两种学说。作者对责任基因的定位、肌原纤维节中突变蛋白的致病机制作一综述，并分析突变基因型与其表型的关系，以利于疾病的诊断和治疗。
关键词： 遗传性疾病,心肌病,肥厚性
家族性肥厚型心肌病(FHCM)是以心肌肥厚、病理组织心肌纤维肥大、排列紊乱为特征的遗传性疾病，系常染色体显性遗传，单一责任等位基因突变即可致病。约占肥厚型心肌病的80%，临床表现有不同的基因表型，患者可有呼吸困难、心悸、眩晕等症状，严重者可致心脏衰竭、休克和猝死，亦有少数健康年轻人以猝死为唯一表现。年死亡率约3%～5%。疾病外显与年龄相关，少数具有突变基因的家系成员疾病可终生不外显。正是由于FHCM基因表型具有多样性和一定程度的不可预测性，使目前临床上缺乏肥厚型心肌病敏感的诊断标准。近十年来，致病责任基因的发现，使我们对FHCM病因、发病机制、诊断和治疗有了新的认识。
目录：
1 连锁分析和致病基因的确定
2 基因型与基因表型的关系
3 FHCM发病机制
4 FHCM基因诊断、治疗展望
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