中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2009年
4期
245-247
,共3页
苏宗权%甘世锐%吴志英%陈万金%陈嬿%王柠%慕容慎行%吕传真
囌宗權%甘世銳%吳誌英%陳萬金%陳嬿%王檸%慕容慎行%呂傳真
소종권%감세예%오지영%진만금%진연%왕저%모용신행%려전진
肌萎缩侧索硬化%运动神经元%基因缺失%神经组织蛋白质类%RNA结合蛋白质类%cAMP反应元件结合蛋白质
肌萎縮側索硬化%運動神經元%基因缺失%神經組織蛋白質類%RNA結閤蛋白質類%cAMP反應元件結閤蛋白質
기위축측색경화%운동신경원%기인결실%신경조직단백질류%RNA결합단백질류%cAMP반응원건결합단백질
Aroyotrophic lateral sclerosis%Motor neurons%Gene deletion%Nerve tissue proteins%RNA-binding proteins%Cyclic AMP response eleroent-binding protein
目的 探讨我国散发性肌萎缩侧索硬化(SALS)与运动神经元生存基因(SMN)缺失之间的关系.方法 收集141例SALS患者和134名健康对照的外周静脉血并抽提DNA,应用聚合酶链反应.限制性片段长度多态性(PCR-RFLP)进行SMN基因缺失筛查.缺失频率的比较采用卡方检验分析.结果 4例SALS患者和3名健康对照分别检出SMN2基因第7、8号外显子纯合缺失,缺失频率分别为2.84%(4/141)和2.24%(3/134),差异无统计学意义(χ2=0.0001,P=1.000).此外,所有研究对象均未检出SMN1基因纯合缺失.结论 SMN基因纯合缺失与我国SALS患者之间无明显相关性.
目的 探討我國散髮性肌萎縮側索硬化(SALS)與運動神經元生存基因(SMN)缺失之間的關繫.方法 收集141例SALS患者和134名健康對照的外週靜脈血併抽提DNA,應用聚閤酶鏈反應.限製性片段長度多態性(PCR-RFLP)進行SMN基因缺失篩查.缺失頻率的比較採用卡方檢驗分析.結果 4例SALS患者和3名健康對照分彆檢齣SMN2基因第7、8號外顯子純閤缺失,缺失頻率分彆為2.84%(4/141)和2.24%(3/134),差異無統計學意義(χ2=0.0001,P=1.000).此外,所有研究對象均未檢齣SMN1基因純閤缺失.結論 SMN基因純閤缺失與我國SALS患者之間無明顯相關性.
목적 탐토아국산발성기위축측색경화(SALS)여운동신경원생존기인(SMN)결실지간적관계.방법 수집141례SALS환자화134명건강대조적외주정맥혈병추제DNA,응용취합매련반응.한제성편단장도다태성(PCR-RFLP)진행SMN기인결실사사.결실빈솔적비교채용잡방검험분석.결과 4례SALS환자화3명건강대조분별검출SMN2기인제7、8호외현자순합결실,결실빈솔분별위2.84%(4/141)화2.24%(3/134),차이무통계학의의(χ2=0.0001,P=1.000).차외,소유연구대상균미검출SMN1기인순합결실.결론 SMN기인순합결실여아국SALS환자지간무명현상관성.
Objective To investigate the correlation between survival motor neuron (SMN) gene deletion and Chinese patients with sporadic amyotrophic lateral sclerosis (SALS).Methods A total of 141SALS patients and 134 unrelated controls were recruited from the Chinese population.Polymerase chain reaction (PCR) and restriction fragment length polymorphisro (RFLP) analysis were performed to screen SMN gene deletion.Frequencies of deletion were coropared by Chi-square test.Results Four patients and 3 controls were detected to have horoozygous SMN2 deletion.The frequencies of SMN2 deletion were 2.84%(4/141) and 2.24% (3/134), respectively, which was not significantly different (χ2= 0.0001, P =1.000).No subjects were found to have homozygous SMN1 deletion.Condusion There is no correlation between SMN gene deletion and Chinese patients with SALS.
