一个患有淀粉样变性的意大利家族中的两种转甲状腺素蛋白突变（Glu42Gly、His90Asn）
Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.
作者信息
Skare J, Jones L A, Myles N, Kane K, Milunsky A, Cohen A, Skinner M
机构信息
Center for Human Genetics, Boston University School of Medicine.
出版信息
Clin Genet. 1994 Jun;45(6):281-4. doi: 10.1111/j.1399-0004.1994.tb04030.x.
A family with familial amyloidotic polyneuropathy (FAP) was previously found to have a substitution of asparagine for histidine at position 90 of transthyretin. Members with his90asn developed FAP. However, close examination of the transthyretin gene revealed that glu42gly is coinherited with his90asn in this family. Since glu42gly has already been seen in Japanese FAP patients, and his90asn has been found in Portuguese and German individuals without FAP, we conclude that his90asn is a nonpathogenic variant.
先前发现一个患有家族性淀粉样多神经病（FAP）的家族，其转甲状腺素蛋白第90位的组氨酸被天冬酰胺替代。携带his90asn的成员患了FAP。然而，对转甲状腺素蛋白基因的仔细检查发现，在这个家族中，glu42gly与his90asn是共同遗传的。由于glu42gly已在日本FAP患者中出现过，而his90asn在没有FAP的葡萄牙人和德国人中也有发现，我们得出结论，his90asn是一种非致病性变异。
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