CAJ | 학술논문

目的：探讨突触受体相关蛋白（rapsyn）基因单核苷酸多态性（SNPs）与重症肌无力（MG）的相关性。方法：从132例MG患者以及153例正常对照组外周血中提取DNA，PCR扩增rapsyn基因的8个外显子，采用直接测序检测基因型。与野生型rapsyn基因比较，分析rapsyn基因突变位点以及与MG临床症状的相关性。结果：rapsyn基因第1、2、4、5、6、7和8外显子与野生基因序列相同，没有发生基因突变。在rapsyn基因第3外显子中发现新SNP：L222R[CTG＞CGG（2）]或T665G。SNP L222R等位基因频率和基因型频率在患者组和对照组均符合Hardy-Weinberg遗传平衡（P＞0.05），具有群体代表性。 G等位基因频率在患者组和对照组之间无统计学差异（ P＞0.05），3种基因型TT、TG、GG在患者组（42.4％ vs 48.5％ vs 9.1％）和对照组（49.0％vs 33.3％vs 17.6％）存在显著性差异（P＜0.05），并且携带GG基因型对照组显著高于患者组（P＜0.05），表现为隐性模型特征。结论：rapsyn基因SNPs与MG存在相关性；L222R（T665G）是新发现的SNP，G等位基因可能是MG的保护因子。
목적：탐토돌촉수체상관단백（rapsyn）기인단핵감산다태성（SNPs）여중증기무력（MG）적상관성。방법：종132례MG환자이급153례정상대조조외주혈중제취DNA，PCR확증rapsyn기인적8개외현자，채용직접측서검측기인형。여야생형rapsyn기인비교，분석rapsyn기인돌변위점이급여MG림상증상적상관성。결과：rapsyn기인제1、2、4、5、6、7화8외현자여야생기인서렬상동，몰유발생기인돌변。재rapsyn기인제3외현자중발현신SNP：L222R[CTG＞CGG（2）]혹T665G。SNP L222R등위기인빈솔화기인형빈솔재환자조화대조조균부합Hardy-Weinberg유전평형（P＞0.05），구유군체대표성。 G등위기인빈솔재환자조화대조조지간무통계학차이（ P＞0.05），3충기인형TT、TG、GG재환자조（42.4％ vs 48.5％ vs 9.1％）화대조조（49.0％vs 33.3％vs 17.6％）존재현저성차이（P＜0.05），병차휴대GG기인형대조조현저고우환자조（P＜0.05），표현위은성모형특정。결론：rapsyn기인SNPs여MG존재상관성；L222R（T665G）시신발현적SNP，G등위기인가능시MG적보호인자。
Objective:To investigate the association of single nucleotide polymorphisms (SNPs) of receptor-associated protein at the synapse ( rapsyn ) with myasthenia gravis ( MG ).Methods: The genomic DNA was extracted from peripheral blood cells , sampled from 132 patients with MG and 153 control individuals.The 8 exons of rapsyn gene were amplified by PCR ,then the products of PCR sequenced directly.Each sequence was compared with wild-type rapsyn gene , and the association between mutation and clinical symptoms of MG analysed.Results:No mutation was found in the exons 1,2,4,5,6,7,and 8 of rapsyn gene both in MG patients and control group compared with the wild-type rapsyn gene.However,a new SNP,L222R[CTG>CGG(2)] or T665G,was found in exon-3.The allele and genotype frequencies of SNP L 222R met Hardy-Weinberg genetic equilibrium (P>0.05),indicating the group repre-sentativeness.The allele frequencies of G were not statistically different between patient and control groups ( P>0.05 ).There were differences in the 3 genotypes TT , TG and GG between patient ( 42.4% vs 48.5% vs 9.1%) and control ( 49.0% vs 33.3% vs 17.6%) groups ( P<0.05 ).The genotype frequencies of GG were statistically higher in control group than that in patient group , showing a recessive model of inheritance.Conclusion: The SNPs in the rapsyn gene are associated with MG in this study.L222R ( T665 G) is a new SNP found and allele G might be a protective factor for MG.