CYP1A2基因多态性与迟发性皮肤卟啉症易感性之间的关联。
Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda.
作者信息
Christiansen L, Bygum A, Jensen A, Thomsen K, Brandrup F, Hørder M, Petersen N E
机构信息
Department of Clinical Biochemistry and Clinical Genetics, Odense University Hospital, Denmark.
出版信息
Hum Genet. 2000 Dec;107(6):612-4. doi: 10.1007/s004390000415.
Individuals with the most common form of the porphyrias, porphyria cutanea tarda (PCT), are believed to be genetically predisposed to development of clinically overt disease through mutations and polymorphisms in genes associated with known precipitating factors. In this study, we have examined a group of Danish patients with PCT for the presence of the C/A polymorphism in intron 1 of CYP1A2. The results demonstrate that the frequency of the highly inducible A/A genotype is increased in both familial and sporadic PCT. This suggests that inheritance of this genotype is a susceptibility factor in development of PCT.
患有最常见形式的卟啉病即迟发性皮肤卟啉病（PCT）的个体，被认为通过与已知诱发因素相关基因的突变和多态性在遗传上易患临床显性疾病。在本研究中，我们检测了一组丹麦PCT患者，以确定CYP1A2基因第1内含子中C/A多态性的存在情况。结果表明，在家族性和散发性PCT中，高诱导性A/A基因型的频率均增加。这表明该基因型的遗传是PCT发病的一个易感因素。
Zotero 插件