No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found.
No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found.
复制标题
没有证据表明额颞叶痴呆家族中的 tau 重复与尚未发现 tau 突变的 tau 基因座存在遗传联系。
DOI：
10.1016/j.neulet.2004.03.070
复制
发表时间：
2004
影响因子：
2.5
通讯作者：
Sin
中科院分区：
文献类型：
--
作者：
Johnson,Janel;Ostojic,Jovanka;Lannfelt,Lars;Glaser,Anna;Basun,Hans;Rogaeva,Ekaterina;Kawarai,Toshitaka;Bruni,Amalia;StGeorgeHyslop,PeterH;Goate,Alison;Pastor,Pau;Chakraverty,Sumi;Norton,Joanne;Morris,JohnC;Hardy,John;Sin
考虑到tau疾病的遗传学与α-突触核蛋白疾病的遗传学之间的显著相似性，以及考虑到我们最近在一个家族中发现了α-突触核蛋白基因座的三倍，其中我们已经显示出与α-突触核蛋白基因座的连锁，我们决定测试是否有一些常染色体显性额叶颞叶痴呆症的家庭，这些家庭显示与tau基因座遗传连锁，但其中tau基因座，尚未发现的突变可能是由类似的结构突变引起的。我们没有发现任何这样的突变。
Given the remarkable similarities between the genetics of tau diseases and the genetics of α-synuclein diseases, and given the fact that we have recently found a triplication of the α-synuclein locus in a family in which we had shown linkage to the α-synuclein locus, we determined to test whether some of the several families with autosomal dominant frontal temporal dementia which show genetic linkage to the tau locus but in which tau mutations have not been found could be caused by similar structural mutations. We did not find any such mutations.