国际遗传学杂志
國際遺傳學雜誌
국제유전학잡지
INTERNATIONAL JOURNAL OF GENETICS
2008年
3期
172-176
,共5页
谷传凯%李海峰%丛志强%杨堃%隋爱华%吕振华
穀傳凱%李海峰%叢誌彊%楊堃%隋愛華%呂振華
곡전개%리해봉%총지강%양곤%수애화%려진화
重症肌无力%雌激素受体-1%基因多态性
重癥肌無力%雌激素受體-1%基因多態性
중증기무력%자격소수체-1%기인다태성
Myasthenia gravis%Estrogen receptor-1%Gene polymorphisms
目的 探讨雌激素受体-1基因多态性在MG患者中的分布特征及其与免疫治疗疗效的关系.方法 选取72例MG患者和50例青年卒中患者(除外自身免疫病)的全血,提取DNA后使用序列特异性PCR扩增技术(SSP-PCR)测定雌激素受体-1基因多态性的表达,比较基因型和等位基因在各种MG特征组(包括性别、年龄、病型、合并胸腺异常、激素疗效)的分布.结果 密码子10基因型分布频率在激素有效组和无效组之间差异有统计学意义(P=0.043),在激素无效组与对照组之间差异亦有统计学意义(P=0.019),考虑到受累范围的影响,基因型的差别在激素疗效各组无统计学意义(P=0.096).在其他亚组间及各亚组与对照组间差异均无统计学意义(P>0.05).密码子10等位基因分布频率在各亚组间差异均无统计学意义(P>0.05).密码子87在实验组、对照组均为G/G型纯合子,不具有多态性.结论 ESR-1基因密码子10、87基因型分布频率对MG发病及临床特征无显著影响.
目的 探討雌激素受體-1基因多態性在MG患者中的分佈特徵及其與免疫治療療效的關繫.方法 選取72例MG患者和50例青年卒中患者(除外自身免疫病)的全血,提取DNA後使用序列特異性PCR擴增技術(SSP-PCR)測定雌激素受體-1基因多態性的錶達,比較基因型和等位基因在各種MG特徵組(包括性彆、年齡、病型、閤併胸腺異常、激素療效)的分佈.結果 密碼子10基因型分佈頻率在激素有效組和無效組之間差異有統計學意義(P=0.043),在激素無效組與對照組之間差異亦有統計學意義(P=0.019),攷慮到受纍範圍的影響,基因型的差彆在激素療效各組無統計學意義(P=0.096).在其他亞組間及各亞組與對照組間差異均無統計學意義(P>0.05).密碼子10等位基因分佈頻率在各亞組間差異均無統計學意義(P>0.05).密碼子87在實驗組、對照組均為G/G型純閤子,不具有多態性.結論 ESR-1基因密碼子10、87基因型分佈頻率對MG髮病及臨床特徵無顯著影響.
목적 탐토자격소수체-1기인다태성재MG환자중적분포특정급기여면역치료료효적관계.방법 선취72례MG환자화50례청년졸중환자(제외자신면역병)적전혈,제취DNA후사용서렬특이성PCR확증기술(SSP-PCR)측정자격소수체-1기인다태성적표체,비교기인형화등위기인재각충MG특정조(포괄성별、년령、병형、합병흉선이상、격소료효)적분포.결과 밀마자10기인형분포빈솔재격소유효조화무효조지간차이유통계학의의(P=0.043),재격소무효조여대조조지간차이역유통계학의의(P=0.019),고필도수루범위적영향,기인형적차별재격소료효각조무통계학의의(P=0.096).재기타아조간급각아조여대조조간차이균무통계학의의(P>0.05).밀마자10등위기인분포빈솔재각아조간차이균무통계학의의(P>0.05).밀마자87재실험조、대조조균위G/G형순합자,불구유다태성.결론 ESR-1기인밀마자10、87기인형분포빈솔대MG발병급림상특정무현저영향.
Objective To discribe the characterestics of ESR-1 gene polymorphisms in MG patients and to explore the relationship between the polymorphisms of genotypic and allelic distributions in MG patients. Methods We collected the total blood samples of 72 MG patients and 50 young stroke patients( excluding autoimmune diseases). DNA was extracted and SSP-PCR methods were used to describe ESR-1 gene polymorphisms. The frequencies of genotype and alleles were compared among different subclasses (including gender,age,type,thymus abnormity and therapeutic effects). Results There were significant defferences between glucocorticoid( + ) group and glucocorticoid( - ) group for the genotypic distributions on condon 10 of exon 1 ( P = 0.043 ),either between the glucocorticoid( - ) group and control group( P = 0. 019). Considering the involved extents, the difference of genotype between therapeutic effect groups had no significance(P=0.096). There were no significant differences among other subclasses or between other subclasses and control group( P>0.05 ). No significant difference was found among different subclasses for alleles on condon 10( P>0.05 ). Condon 87 had no polymorphism because the genotype of all samples (including control group) was G/G. Conclusions There was no significant correlation between the frequency of genotypic distributions on condon 10 and 87 of ESR-1 and MG onsetting and clinical characters.