Yoshioka K, Sasaki H, Yoshioka N, Furuya H, Harada T, Kito S, Sakaki Y
Mol Biol Med. 1986 Aug;3(4):319-28.
Familial amyloidotic polyneuropathy (FAP) is a genetic disorder showing autosomal dominant inheritance. Amyloid fibrils of FAP patients from various origins have been shown to contain a prealbumin variant with Val30----Met30 substitution as a major component. However, the structure of the prealbumin gene responsible for the variation has not been characterized. We determined the complete nucleotide sequence of the prealbumin gene from a patient with the Japanese type of FAP. In comparison with a normal prealbumin gene sequence, the patient's gene was found to be carrying seven base substitutions. The substitution responsible for the Val----Met change was found in exon 2, as expected, and the others were in introns. Hybridization analyses of normal and FAP patient DNAs showed that the base substitution in exon 2 was specific for FAP but the others were polymorphic changes. It was concluded that the mutation responsible for the Val----Met change is the only base change specific for FAP in the prealbumin gene.
家族性淀粉样多神经病（FAP）是一种呈现常染色体显性遗传的遗传性疾病。来自不同来源的FAP患者的淀粉样纤维已被证明含有一种以Val30替换为Met30的前白蛋白变体作为主要成分。然而，导致这种变异的前白蛋白基因的结构尚未得到表征。我们测定了一名日本型FAP患者的前白蛋白基因的完整核苷酸序列。与正常的前白蛋白基因序列相比，发现该患者的基因携带七个碱基替换。正如预期的那样，导致Val替换为Met的替换位于外显子2中，其他的位于内含子中。对正常人和FAP患者DNA的杂交分析表明，外显子2中的碱基替换是FAP特有的，而其他的是多态性变化。得出的结论是，导致Val替换为Met的突变是前白蛋白基因中唯一对FAP特异的碱基变化。
