一氧化氮合酶2A基因中的CCTTT多态性与路易体痴呆有关。
The CCTTT polymorphism in the NOS2A gene is associated with dementia with Lewy bodies.
作者信息
Xu W, Liu L, Emson P, Harrington C R, McKeith I G, Perry R H, Morris C M, Charles I G
机构信息
The Wolfson Institute for Biomedical Research, London, UK.
出版信息
Neuroreport. 2000 Feb 7;11(2):297-9. doi: 10.1097/00001756-200002070-00015.
We report the analysis of the allele distribution of a (CCTTT)n pentanucleotide repeat within the promoter region of the NOS2A gene in DNA samples from patients with autopsy confirmed Alzheimer's disease (AD) and dementia with Lewy bodies (DLB) type. A significant difference was observed in the allelic distribution between the control group and the DLB group (chi2 = 15.175, df = 5; p<0.01), with an increased occurrence of the eight and nine repeat alleles, and a marked under representation of the 11 repeat allele. Genotype frequencies in the DLB group also differed significantly from controls (p<0.012). These results suggest that variations in the NOS2A gene may predispose to the development of DLB.
我们报告了对经尸检确诊为阿尔茨海默病（AD）和路易体痴呆（DLB）型痴呆患者的DNA样本中NOS2A基因启动子区域内（CCTTT）n五核苷酸重复序列的等位基因分布分析。在对照组和DLB组之间观察到等位基因分布存在显著差异（卡方 = 15.175，自由度 = 5；p<0.01），八次和九次重复等位基因的出现频率增加，而11次重复等位基因的代表性明显不足。DLB组的基因型频率也与对照组有显著差异（p<0.012）。这些结果表明，NOS2A基因的变异可能易患DLB。
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