爱尔兰西北部的家族性淀粉样多神经病（转甲状腺素蛋白第60位丙氨酸突变）：一项临床、遗传学及流行病学研究。
Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study.
作者信息
Reilly M M, Staunton H, Harding A E
机构信息
University Department of Clinical Neurology, Institute of Neurology, London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1995 Jul;59(1):45-9. doi: 10.1136/jnnp.59.1.45.
Abstract
A cluster of cases of familial amyloid polyneuropathy has been described in Donegal, north west Ireland. Two patients from this region have been shown to have the ala 60 mutation in the transthyretin gene. Three kindreds with this mutation have also been described in the United States. Genealogical and haplotype studies indicate that all known patients with this mutation are related and are descended from a founder in north west Ireland. There is evidence for reduced penetrance of this disorder. A population based study showed that 1.1% of the population in this area in north west Ireland carry the mutation. This has implications in terms of diagnosis, genetic counselling, and treatment in the future.
摘要
爱尔兰西北部多尼戈尔郡曾报道过一组家族性淀粉样多神经病病例。该地区的两名患者已被证实转甲状腺素蛋白基因存在第60位丙氨酸突变。美国也报道过三个携带此突变的家族。系谱和单倍型研究表明，所有已知携带该突变的患者都有亲缘关系，且均为爱尔兰西北部一位始祖的后裔。有证据表明这种疾病的外显率降低。一项基于人群的研究显示，爱尔兰西北部该地区1.1%的人口携带该突变。这对未来的诊断、遗传咨询和治疗具有重要意义。
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