Pang C P, Zhang J, Woo J, Chan D, Law L K, Tong S F, Kwok T, Kay R
Department of Chemical Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, N.T.
Mov Disord. 1998 May;13(3):529-32. doi: 10.1002/mds.870130324.
Impaired debrisoquine metabolism resulting from defects in the cytochrome P450 CYP2D6-debrisoquine hydroxylase gene has been shown to be associated with the development of Parkinson's disease (PD). We studied two polymorphisms in this gene in 207 Chinese PD patients and 227 control subjects by polymerase chain reaction and restriction analysis. The G to A substitution at position 1934 in the junction of intron 3/exon 4 was detected in one sporadic PD patient and two control subjects, all of whom were heterozygous. The single base deletion at position 2637 in exon 5 was not detected in any of the study subjects. Such rarity of CYP2D6 polymorphism indicates PD in the Chinese population is associated with some other gene defects.
细胞色素P450 CYP2D6-异喹胍羟化酶基因缺陷导致的异喹胍代谢受损已被证明与帕金森病（PD）的发生有关。我们通过聚合酶链反应和限制性分析，研究了207例中国PD患者和227例对照受试者中该基因的两种多态性。在1例散发性PD患者和2例对照受试者中检测到内含子3/外显子4交界处第1934位的G到A替换，他们均为杂合子。在任何研究对象中均未检测到外显子5第2637位的单碱基缺失。CYP2D6多态性如此罕见表明中国人群中的PD与其他一些基因缺陷有关。
