摘要
目的探讨α2-巨球蛋白基因(α2-macroglobulin gene,A2M)第24外显子1000G/A及第18外显子5′端剪接点5个碱基插入/缺失(insertion/deletion,I/D)多态与中国北方帕金森病(Parkinson’s disease,PD)和特发性震颤(essential tremor,ET)的关联。方法应用聚合酶链反应-限制性片段长度多态性方法,对87例PD、73例ET和100名健康对照者A2MG/A和I/D两个位点的基因型和等位基因分布频率进行检测。结果(1)A2M基因G/A位点基因型和等位基因分布,在PD与ET、对照组间差异有统计学意义(P<0.05),PD组的G等位基因和GA基因型明显高于ET、对照组(P<0.05);而ET与对照组间相比,差异无统计学意义(P>0·05)。(2)A2M基因I/D位点基因型和等位基因分布,在PD、ET、对照组间差异无统计学意义(P>0.05)。结论(1)G/A位点多态与PD的发病有关联,G/A位点多态与ET无关。(2)I/D位点多态与中国北方PD、ET无关。
Objective 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. Methods 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. Results （1） The allelic and genotypic distributions ofA2M 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 ofA2M I/D among PD, ET patients and selected controls were found to be of no statistical significance （ P 〉 0.05）. Conclusion （ 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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2006年第1期84-85,共2页
Chinese Journal of Medical Genetics
