国际遗传学杂志
國際遺傳學雜誌
국제유전학잡지
INTERNATIONAL JOURNAL OF GENETICS
2009年
3期
168-171
,共4页
窦霄云%沈岳飞%林慧琼%季米娜%谭建强%华荣%胡启平%方玲%袁志刚
竇霄雲%瀋嶽飛%林慧瓊%季米娜%譚建彊%華榮%鬍啟平%方玲%袁誌剛
두소운%침악비%림혜경%계미나%담건강%화영%호계평%방령%원지강
帕金森病%Parkin基因%-258T/G多态性%G等位基因
帕金森病%Parkin基因%-258T/G多態性%G等位基因
파금삼병%Parkin기인%-258T/G다태성%G등위기인
Parkinson's disease%Parkin gene%-258T/G polymorphism%G allele
目的 探讨广西地区parkin基因启动子区-258T/G多态性与散发性帕金森病(sporadicParkinson's disease,SPD)的相关性及该多态性与PD发病年龄的关系.方法 PCR-RFLP及DNA测序等技术,分析parkin基因-258T/G多态性在PD患者和健康对照者间分布频率的差异.结果 PD组parkin基因-258T/G多态性位点G等位基因频率显著高于正常对照组(55.20%:43.33%,x2=6.898,P<0.05,OR=1.61,95%CI:1.13～2.30);GG基因型频率显著高于对照组(28.00%:18.33%,x2=7.159,P<0.05,OR=2.75,95%CI:1.31-5.77).同时,TG+GG基因型频率亦显著高于对照组(82.40%:68.33%,x2=6.551,P<0.05,OR=2.17,95%CI:1.20～3.93).50岁及50岁以上发病患者G等位基因频率和GG基因型频率显著高于对照组,50岁以下发病患者各频率虽高于正常对照组但差异无统计学意义.结论 Parkin基因核心启动子区-258T/G多态G等位基因可能增加了广西地区PD发病风险,且与PD发病年龄成正相关.
目的 探討廣西地區parkin基因啟動子區-258T/G多態性與散髮性帕金森病(sporadicParkinson's disease,SPD)的相關性及該多態性與PD髮病年齡的關繫.方法 PCR-RFLP及DNA測序等技術,分析parkin基因-258T/G多態性在PD患者和健康對照者間分佈頻率的差異.結果 PD組parkin基因-258T/G多態性位點G等位基因頻率顯著高于正常對照組(55.20%:43.33%,x2=6.898,P<0.05,OR=1.61,95%CI:1.13～2.30);GG基因型頻率顯著高于對照組(28.00%:18.33%,x2=7.159,P<0.05,OR=2.75,95%CI:1.31-5.77).同時,TG+GG基因型頻率亦顯著高于對照組(82.40%:68.33%,x2=6.551,P<0.05,OR=2.17,95%CI:1.20～3.93).50歲及50歲以上髮病患者G等位基因頻率和GG基因型頻率顯著高于對照組,50歲以下髮病患者各頻率雖高于正常對照組但差異無統計學意義.結論 Parkin基因覈心啟動子區-258T/G多態G等位基因可能增加瞭廣西地區PD髮病風險,且與PD髮病年齡成正相關.
목적 탐토엄서지구parkin기인계동자구-258T/G다태성여산발성파금삼병(sporadicParkinson's disease,SPD)적상관성급해다태성여PD발병년령적관계.방법 PCR-RFLP급DNA측서등기술,분석parkin기인-258T/G다태성재PD환자화건강대조자간분포빈솔적차이.결과 PD조parkin기인-258T/G다태성위점G등위기인빈솔현저고우정상대조조(55.20%:43.33%,x2=6.898,P<0.05,OR=1.61,95%CI:1.13～2.30);GG기인형빈솔현저고우대조조(28.00%:18.33%,x2=7.159,P<0.05,OR=2.75,95%CI:1.31-5.77).동시,TG+GG기인형빈솔역현저고우대조조(82.40%:68.33%,x2=6.551,P<0.05,OR=2.17,95%CI:1.20～3.93).50세급50세이상발병환자G등위기인빈솔화GG기인형빈솔현저고우대조조,50세이하발병환자각빈솔수고우정상대조조단차이무통계학의의.결론 Parkin기인핵심계동자구-258T/G다태G등위기인가능증가료엄서지구PD발병풍험,차여PD발병년령성정상관.
Objective To investigate the association between the-258T/G polymorphism.in the pro-moter of parkin gene and the risk for sporadic parkinson's disease (SPD) in Guangxi Province, and in relationto the age of onset, of PD patients. Methods PCR-RFLP and sequence analysis were used to determine thegenotype of-258T/G polymorphism between all patients and healthy controls. Results The G allele was morecommon in patients than controls (55.20%:43.33% ,x2=6.898, P<0.05, OR=1.61, 95% CI: 1.13 ～2.30). The frequency of GG genotype was higher in patients than in controls (28.00 %: 18.33%, x2=7.159, P<0.05, OR=2.75, 95% CI : 1.31 ～ 5.77). The frequency of TG + GG genotype was higher in pa-tients than in controls (82.40%:68.33%, x2=6.551, P<0.05, OR=2.17.95%CI: 1.20 ～3.93). Afterbeing stratified by onset age, the frequencies of the G allele and GG genotype were significantly higher in pa-tients with onset age over 50 years than those in controls respectively. On the other hand, the frequency was notsignificantly different between the younger onset PD patients and the controls. Conclusion The parkin promot-er-258T/G polymorphism might be a risk factor for PD in Guangxi Province, and the G allele was increasedwith increasing age.
