Brown P, Gálvez S, Goldfarb L G, Nieto A, Cartier L, Gibbs C J, Gajdusek D C
Laboratory of CNS Studies, NIH, Bethesda, MD 20892.
J Neurol Sci. 1992 Oct;112(1-2):65-7. doi: 10.1016/0022-510x(92)90133-6.
We have found the codon 200Lys mutation in 6 Chilean CJD families, including a family in the rural case cluster in Chillán. Thus, all 3 of the known clusters of CJD, in Slovakia, Libyan-born Israeli Jews, and Chile, are linked to the presence of the same mutation. The phenotypic features of the disease in these families are similar to those reported for other clustered or individual families elsewhere in the world. The heterogeneous genetic composition of the Chilean population interpreted in light of historical migration patterns suggests that the mutation may have entered Chile by Jewish emigration from Spain.
我们在6个智利克雅氏病（CJD）家族中发现了密码子200赖氨酸突变，其中包括奇廉农村病例聚集区的一个家族。因此，已知的斯洛伐克、出生于利比亚的以色列犹太人和智利的3个CJD聚集区均与同一突变的存在有关。这些家族中该疾病的表型特征与世界其他地方报道的其他聚集性或单个家族的特征相似。根据历史移民模式来解读，智利人口的异质基因组成表明该突变可能是通过西班牙的犹太移民进入智利的。
