MOLECULAR GENETICS OF FAMILIAL TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES

传染性非典型肺炎家系的分子遗传学研究 海绵状脑病（TSE）是感兴趣的，以便：（1） 阐明PRNP基因中的点突变分布， 世界;（2）发现与疾病相关的新突变;以及 (3)研究突变与某些疾病表型的关系。 两个新的家庭，其中一个爱尔兰血统，具有致命的表型 家族性失眠症（FFI）是在澳大利亚发现的。 一个FFI家庭 是在爱尔兰发现的 分子遗传分析显示 编码Met的等位基因上的致病性点突变D178 N， 第129章这是确诊 一个新 携带致病性突变的克雅氏病家族 在美国检测到200位密码子Glu为Lys。 在七个显然 散发病例，两个点突变D178 N，E299 K突变，120 bp 结果表明，该基因存在3个24 bp的插入突变和3个24 bp的缺失突变， 事实表明，评估疑似TSE病例的重要性， PRNP基因突变的存在。 检测到插入突变 在南非的一名患者中， 突变。

The molecular genetic studies of families afflicted with transmissible spongiform encephalopathies (TSEs) is of interest in order to: (1) clarify the distribution of point mutations in the PRNP gene around the world; (2) discover the new mutations associated with the disease; and (3) study association of the mutations with certain disease phenotype. Two new families, one of them of Irish origin, having phenotype of fatal familial insomnia (FFI) were discovered in Australia. One FFI family was found in Ireland. Molecular genetic analysis revealed presence of the pathogenic point mutation D178N on the allele coding for Met at position 129 in these families confirming the diagnosis. One new Creutzfeldt-Jakob disease family carrying the pathogenic mutation at codon 200 Glu to Lys was detected in America. In seven apparently sporadic cases, two point mutations D178N, E299K mutations, 120 bp insertion mutation and three 24 bp deletion mutations were found. This fact points to the importance of evaluation of suspected TSE cases for the presence of PRNP gene mutations. Insertion mutation was detected in a patient from South Africa indicating the wider spread of such mutations.