中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2015年
19期
1518-1521
,共4页
重症肌无力%受体,肾上腺素能β2%基因多态性%胸腺
重癥肌無力%受體,腎上腺素能β2%基因多態性%胸腺
중증기무력%수체,신상선소능β2%기인다태성%흉선
Myasthenia Gravis%β2-adrenergic receptor%Polymorphism%Thymus
目的 探讨β2肾上腺素能受体(β2-AR)16位、27位点基因多态性与伴发胸腺异常的重症肌无力(TMG)发生、胸腺组织类型的关系.方法 2002-2014年北京世纪坛医院神经内科病房及门诊的76例MG患者,伴发胸腺瘤24例,伴发胸腺增生40例,胸腺正常12例.应用PCR产物直接测序方法检测MG患者组(MGG)和75名性别、年龄相匹配的健康对照组(HCG)β2-AR基因多态性分布特征.结果 16位点存在A→G突变、27位点存在C→G突变,16位点Arg/Arg、Arg/Gly和Gly/Gly基因型频率在胸腺瘤MGG与HCG间(x2=0.460,P=0.895)、胸腺增生MGG与HCG间(x2=2.585,P=0.278)差异均无统计学意义.Arg和Gly等位基因频率在胸腺瘤MGG与HCG差异(x2 =0.137,P=0.711),胸腺增生MGG与HCG差异均无统计学意义(x2 =0.300,P=0.584).27位点Gln/Gln、Gln/Glu和Glu/Glu基因型频率及Gln、Glu等位基因频率在胸腺瘤MGG和HCG间(基因型P=0.866;等位基因x2=0.030,P=0.860),胸腺增生MGG和HCG间(基因型P=0.907;等位基因x2=0.373,P=0.542)差异均无统计学意义.MGG胸腺瘤、胸腺增生和胸腺正常组间27位点差异有统计学意义(P=0.041),三组间16位点差异无统计学意义(x2=3.374,P=0.497).各组的基因型多态性分布均符合Hardy-Weinberg定律(P＞0.05).结论 β2-AR基因16、27位点多态性与伴发胸腺异常的MG发病无明确相关性.β2-AR基因27位点多态性与MG患者胸腺不同组织类型相关.
目的 探討β2腎上腺素能受體(β2-AR)16位、27位點基因多態性與伴髮胸腺異常的重癥肌無力(TMG)髮生、胸腺組織類型的關繫.方法 2002-2014年北京世紀罈醫院神經內科病房及門診的76例MG患者,伴髮胸腺瘤24例,伴髮胸腺增生40例,胸腺正常12例.應用PCR產物直接測序方法檢測MG患者組(MGG)和75名性彆、年齡相匹配的健康對照組(HCG)β2-AR基因多態性分佈特徵.結果 16位點存在A→G突變、27位點存在C→G突變,16位點Arg/Arg、Arg/Gly和Gly/Gly基因型頻率在胸腺瘤MGG與HCG間(x2=0.460,P=0.895)、胸腺增生MGG與HCG間(x2=2.585,P=0.278)差異均無統計學意義.Arg和Gly等位基因頻率在胸腺瘤MGG與HCG差異(x2 =0.137,P=0.711),胸腺增生MGG與HCG差異均無統計學意義(x2 =0.300,P=0.584).27位點Gln/Gln、Gln/Glu和Glu/Glu基因型頻率及Gln、Glu等位基因頻率在胸腺瘤MGG和HCG間(基因型P=0.866;等位基因x2=0.030,P=0.860),胸腺增生MGG和HCG間(基因型P=0.907;等位基因x2=0.373,P=0.542)差異均無統計學意義.MGG胸腺瘤、胸腺增生和胸腺正常組間27位點差異有統計學意義(P=0.041),三組間16位點差異無統計學意義(x2=3.374,P=0.497).各組的基因型多態性分佈均符閤Hardy-Weinberg定律(P＞0.05).結論 β2-AR基因16、27位點多態性與伴髮胸腺異常的MG髮病無明確相關性.β2-AR基因27位點多態性與MG患者胸腺不同組織類型相關.
목적 탐토β2신상선소능수체(β2-AR)16위、27위점기인다태성여반발흉선이상적중증기무력(TMG)발생、흉선조직류형적관계.방법 2002-2014년북경세기단의원신경내과병방급문진적76례MG환자,반발흉선류24례,반발흉선증생40례,흉선정상12례.응용PCR산물직접측서방법검측MG환자조(MGG)화75명성별、년령상필배적건강대조조(HCG)β2-AR기인다태성분포특정.결과 16위점존재A→G돌변、27위점존재C→G돌변,16위점Arg/Arg、Arg/Gly화Gly/Gly기인형빈솔재흉선류MGG여HCG간(x2=0.460,P=0.895)、흉선증생MGG여HCG간(x2=2.585,P=0.278)차이균무통계학의의.Arg화Gly등위기인빈솔재흉선류MGG여HCG차이(x2 =0.137,P=0.711),흉선증생MGG여HCG차이균무통계학의의(x2 =0.300,P=0.584).27위점Gln/Gln、Gln/Glu화Glu/Glu기인형빈솔급Gln、Glu등위기인빈솔재흉선류MGG화HCG간(기인형P=0.866;등위기인x2=0.030,P=0.860),흉선증생MGG화HCG간(기인형P=0.907;등위기인x2=0.373,P=0.542)차이균무통계학의의.MGG흉선류、흉선증생화흉선정상조간27위점차이유통계학의의(P=0.041),삼조간16위점차이무통계학의의(x2=3.374,P=0.497).각조적기인형다태성분포균부합Hardy-Weinberg정률(P＞0.05).결론 β2-AR기인16、27위점다태성여반발흉선이상적MG발병무명학상관성.β2-AR기인27위점다태성여MG환자흉선불동조직류형상관.
Objective To investigate the association of two β2-adrenergic receptor (β2-AR) polymorphisms (Arg16Gly,Gln27Glu) with Myasthenia Gravis (MG) associated with thymus abnormality.Methods Among the 74 MG patients in analysis,24 cases were associated with thymoma,40 cases with thymic hyperplasia,12 with normal thymus.The genotypes of β2-AR in 76 MG (MGG) and 75 age and gender-matched healthy controls (HCG) were determined by polymerase chain reaction and nucleotide sequence determination.Results The frequencies of three genotypes (Arg/Arg,Arg/Gly,Gly/Gly) and alleles (Arg,Gly)in position 16 between MGG with thymoma and HCG (genotype x2 =0.460,P =0.895;allele x2 =0.137,P =0.711),MGG with thymic hyperplasia and HCG were not statistically insignificant (genotype x2 =2.585,P =0.278;allele x2 =0.300,P =0.584).The difference in distribution of the genotypes (Gln/Gln,Gln/Glu,Glu/Glu) and alleles (Gln,Glu) between MGG with thymoma and HCG (genotype P =0.866;allele x2 =0.030,P =0.860),MGG with thymic hyperplasia and HCG (genotype P =0.907;allele x2 =0.373,P =0.542) were statistically insignificant.The genotypes distribution of position 27 in different thymus histology (thymoma,thymic hyperplasia,normal thymus) of MGG were significantly different (P =0.041).The genotype frequencies in all groups were both in Hardy-Weinberg equilibrium (P ＞ 0.05).Conclusion Arg/Gly and Gln/Glu polymorphisms of β2-AR might have no relationship with the risk of MG associated with thymus abnormality.The genotypes polymorphism of position 27 may related with the different thymus histology of MG.
