Xiao Ying, Zhang Ben-shu
Department of Neurology, the General Hospital of Tianjin Medical University, Tianjin 300052, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Feb;23(1):84-5.
To study the association of two polymorphisms of alpha-2 macroglobulin gene (A2M), a 1000G/A in exon 24 and a pentanucleotide insertion/deletion (I/D) in the 5'splice site in exon 18, with Parkinson's disease (PD) and essential tremor (ET) in North China.
Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to investigate 87 cases of Parkinson's disease (PD),73 cases of ET and 100 randomly selected healthy control subjects.
(1) The allelic and genotypic distributions of A2M G/A were significantly different among the PD, ET patients and controls (P<0.05). The allele G and genotype GA in PD patients were significantly higher than those in ET patients or controls (P<0.05). There was no statistically significant difference between ET patients and controls in allelic and genotypic distribution (P>0.05). (2) The differences in allelic and genotypic distributions of A2M I/D among PD, ET patients and selected controls were found to be of no statistical significance (P>0.05).
(1) The polymorphism at the site of G/A might be associated with PD, but there might be no genetic association of polymorphism at this site with ET. (2) There might be no association of polymorphism at the site of I/D with PD and ET in North China.
研究α-2巨球蛋白基因（A2M）的两种多态性，即第24外显子的1000G/A和第18外显子5'剪接位点的五核苷酸插入/缺失（I/D），与中国北方帕金森病（PD）和特发性震颤（ET）的关系。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对87例帕金森病患者、73例特发性震颤患者和100例随机选取的健康对照者进行研究。
（1）A2M G/A的等位基因和基因型分布在帕金森病患者、特发性震颤患者和对照组之间存在显著差异（P<0.05）。帕金森病患者的等位基因G和基因型GA显著高于特发性震颤患者或对照组（P<0.05）。特发性震颤患者和对照组在等位基因和基因型分布上无统计学显著差异（P>0.05）。（2）发现A2M I/D的等位基因和基因型分布在帕金森病患者、特发性震颤患者和选定对照组之间无统计学显著差异（P>0.05）。
（1）G/A位点的多态性可能与帕金森病有关，但该位点的多态性可能与特发性震颤无遗传关联。（2）在中国北方，I/D位点的多态性可能与帕金森病和特发性震颤无关。
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