Patrosso M C, Salvi F, De Grandis D, Vezzoni P, Jacobson D R, Ferlini A
Istituto di Technologie Biomediche Avanzate, CNR Milano, Italy.
Am J Med Genet. 1998 May 1;77(2):135-8. doi: 10.1002/(sici)1096-8628(19980501)77:2<135::aid-ajmg5>3.0.co;2-r.
We report on the genetic and molecular characterisation of an Italian family with a late-onset, autosomal dominant transthyretin amyloidosis. The transthyretin gene was analysed by polymerase chain reaction (PCR), restriction generating PCR, and sequencing, allowing us to discover in one allele a novel point mutation. It consists of a G to C transversion at position 1692 of the genomic sequence, leading to a Thr for Arg substitution at the position 34 of the polypeptidic chain. This mutation is associated with a severe sensory-motor peripheral neuropathy and a restrictive cardiomyopathy.
我们报告了一个患有迟发性常染色体显性转甲状腺素蛋白淀粉样变性的意大利家族的基因和分子特征。通过聚合酶链反应（PCR）、限制性片段生成PCR和测序对转甲状腺素蛋白基因进行了分析，使我们在一个等位基因中发现了一个新的点突变。它由基因组序列第1692位的G到C颠换组成，导致多肽链第34位的苏氨酸替代精氨酸。该突变与严重的感觉运动性周围神经病变和限制性心肌病相关。
