Fukuda R, Hattori M, Sasaki T, Kazamatsuri H, Kuwata S, Shibata Y, Nanko S
Department of Psychiatry, Teikyo University School of Medicine, Tokyo, Japan.
Jpn J Hum Genet. 1993 Dec;38(4):407-11. doi: 10.1007/BF01907987.
A point mutation at codon 717 of amyloid precursor protein (APP) gene has been demonstrated to play an important pathogenic role in some cases of familial Alzheimer's disease (FAD). Recently, a single case of chronic schizophrenia with a point mutation at codon 713 of APP gene which sits very close to the mutation in FAD was reported. We screened for these two kinds of mutations in 39 schizophrenic patients using polymerase chain reaction (PCR) and restriction enzyme technique. A mutation of codon 713 creates a MaeIII restriction site and that of codon 717 creates a BclI site. Enzyme digestion with amplified PCR product revealed no restriction site in all subjects. None of our subjects had either of these two kinds of mutations. Our findings support the hypothesis that the case of a mutation at codon 713 of APP gene is a natural non-pathogenic variant and, as well as a mutation at codon 717, has no relation with the genetic predisposition to schizophrenia.
淀粉样前体蛋白（APP）基因第717密码子处的点突变已被证明在某些家族性阿尔茨海默病（FAD）病例中起重要的致病作用。最近，有报道称1例慢性精神分裂症患者的APP基因第713密码子处存在点突变，该位点与FAD中的突变位点非常接近。我们使用聚合酶链反应（PCR）和限制性内切酶技术对39例精神分裂症患者进行了这两种突变的筛查。第713密码子的突变产生一个MaeIII限制性酶切位点，第717密码子的突变产生一个BclI位点。对扩增的PCR产物进行酶切，结果显示所有受试者均无限制性酶切位点。我们的受试者均未发生这两种突变。我们的研究结果支持以下假说：APP基因第713密码子处的突变是一种天然的非致病性变异，与第717密码子处的突变一样，与精神分裂症的遗传易感性无关。
