摘要
目的 探讨多巴胺代谢酶 -单胺氧化酶 A ( monoamine oxidase A,MAO- A)基因 Fnu4 H 酶切位点多态性与帕金森病 ( Parkinson's disease,PD)遗传易感性的关系。方法 应用聚合酶链反应 -限制性片段长度多态性技术分析了 MAO- A基因 Fnu4 H 酶切位点多态性在 PD患者与正常对照之间分布频率的差异。结果 PD组和对照组的 G等位基因的频率分别为 0 .6 13和 0 .5 2 7( P=0 .0 39) ,TT基因型频率分别为 0 .30 3和 0 .4 15 ( P=0 .0 14 ) ,GG基因型频率分别为 0 .5 6 4和 0 .4 5 1( P=0 .0 2 1)。根据发病年龄分组后 ,表明这种差异主要存在于早发性 PD和对照组之间 ,G等位基因在早发 PD组和对照组中的频率分别为 0 .6 4 2和 0 .5 2 7( P=0 .0 2 9) ;GG基因型频率分别为 0 .5 85和 0 .4 5 1( P=0 .0 32 ) ;按性别分组后发现差异仅存在于男性 PD和对照组之间 ,G等位基因的频率在男性 PD组和对照组中分别为 0 .6 6 9和 0 .5 0 0 ( P= 0 .0 0 5 )。结论 MAO- A基因 Fnu4 H 位点在对照组和 PD患者之间的分布差异有显著性 ,G等位基因和 GG基因型频率在 PD组中较高 ,支持 MAO- A基因多态性与 PD相关的假说 ,而且与
Objective To study the association between the polymorphism of human monoamine oxidase type A (MAO A) gene and Parkinson's disease(PD). Methods Fnu4HⅠ restriction fragment length polymorphism(RFLP) and PCR RFLP were used to detect the mutation of MAO A gene. The frequencies of alleles and genotypes at the MAO A Fnu4HI locus on the X chromosome in different PD group were compared with those of the control group. Results It was found that the frequencies of G allele in the patients with PD and controls were 0.613 and 0.527 respectively, P =0 039; the frequencies of TT genotype were 0.303 and 0.415( P =0.014), and the frequencies of GG genotype were 0.564 and 0 451 respectively( P =0.021). When the patients were divided into two groups by age onset, significant difference in the allelic and genotypic frequencies was observed only between early onset PD group and control group. And when the PD patients were grouped by sex, significant difference was observed only between male PD group and male control group (the frequencies of G allele being 0.669 and 0.500 respectively, P =0.005). Conclusion This study revealed significant differences between PD group and control group in allelic and genotypic frequencies. The findings supported the hypothesis about an association between MAO A gene and PD, suggesting that age at onset of PD and gender predisposition might be related to the putative association, and Fnu4HⅠ SNP be a risk factor for PD.
出处
《中华医学遗传学杂志》
CAS
CSCD
2003年第3期211-214,共4页
Chinese Journal of Medical Genetics
基金
北京市自然科学基金重点项目 (7981 0 0 1 )
北京市卫生局重点学科项目~~
