家族性帕金森病中的异喹胍羟化酶基因多态性
Debrisoquine hydroxylase gene polymorphism in familial Parkinson's disease.
作者信息
Planté-Bordeneuve V, Davis M B, Maraganore D M, Marsden C D, Harding A E
机构信息
University Department of Clinical Neurology (Neurogenetics and Movement Disorders Sections), Institute of Neurology, London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1994 Aug;57(8):911-3. doi: 10.1136/jnnp.57.8.911.
Recent molecular genetic studies of the cytochrome P-450 system enzyme CYP2D6, which hydroxylates debrisoquine, have indicated an excess of mutant alleles in patients with Parkinson's disease compared with controls. This indicates that the CYP2D6 locus confers genetic susceptibility to Parkinson's disease. CYP2D6 polymorphism has been investigated in 48 patients with familial Parkinson's disease, from 22 families, and 88 of their unaffected relatives. An excess of CYP2D6 mutant alleles in patients compared with healthy relatives was found only in subjects over the age of 60 years, presumably reflecting the age related prevalence of this disease. There was no difference in distribution of genotypes, however, between sib pairs concordant or discordant for Parkinson's disease. Linkage analysis, exclusively with affected family members, yielded negative lod scores. These data indicate that the CYP2D6 locus is not the major determinant of genetic susceptibility in familial Parkinson's disease.
近期对细胞色素P - 450系统酶CYP2D6（该酶可使异喹胍羟基化）的分子遗传学研究表明，与对照组相比，帕金森病患者中突变等位基因过多。这表明CYP2D6基因座赋予了帕金森病的遗传易感性。对来自22个家族的48例家族性帕金森病患者及其88名未患病亲属进行了CYP2D6多态性研究。仅在60岁以上的受试者中发现患者的CYP2D6突变等位基因比健康亲属多，这大概反映了该疾病与年龄相关的患病率。然而，帕金森病一致或不一致的同胞对之间的基因型分布没有差异。仅对患病家庭成员进行连锁分析，得到的连锁值为阴性。这些数据表明，CYP2D6基因座不是家族性帕金森病遗传易感性的主要决定因素。
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