CAJ | 학술논문

目的探讨血清水通道蛋白4 (AQP4)-IgG阳性的视神经脊髓炎(NMO)及视神经脊髓炎疾病谱(NMOSD)患者AQP4基因多态性与疾病易患性之间的相关性.方法收集84例血清AQP4-IgG阳性的NMO及NMOSD患者作为研究对象.PCR扩增AQP4基因功能区,再对扩增产物进行双向测序,最后通过与单核苷酸多态性数据库(dbSNP)公布的中国人群AQP4基因DNA序列比较,寻找阳性突变位点.应用SPSS 16.0统计软件进行二项分布检验.结果 (1)共发现9个未报道的新变异位点,但出现频率低；1个变异位点位于外显子2区,但为同义突变,其余8个变异位点均位于基因调控区；未检测到有明确功能意义的非同义突变、终止密码子变异或者剪切位点变异.(2)AQP4基因功能区共检测出15个已知基因单核苷酸多态性(SNP)位点,其中SNP rs3763043[G突变为A:42.3％ (71/168)与34.0％(134/394),x2=0.032,P=0.016]及rs14393[C突变为A:42.3％(71/168)与34.5％ (136/394),x2=0.044,P=0.022],与dbSNP数据比较突变频率差异具有统计学意义.结论 AQP4 SNP与多数汉族AQP4-IgG阳性患者发病无明显相关性,但少数患者可能存在AQP4基因多态性改变.
목적 탐토혈청수통도단백4 (AQP4)-IgG양성적시신경척수염(NMO)급시신경척수염질병보(NMOSD)환자AQP4기인다태성여질병역환성지간적상관성.방법 수집84례혈청AQP4-IgG양성적NMO급NMOSD환자작위연구대상.PCR확증AQP4기인공능구,재대확증산물진행쌍향측서,최후통과여단핵감산다태성수거고(dbSNP)공포적중국인군AQP4기인DNA서렬비교,심조양성돌변위점.응용SPSS 16.0통계연건진행이항분포검험.결과 (1)공발현9개미보도적신변이위점,단출현빈솔저；1개변이위점위우외현자2구,단위동의돌변,기여8개변이위점균위우기인조공구；미검측도유명학공능의의적비동의돌변、종지밀마자변이혹자전절위점변이.(2)AQP4기인공능구공검측출15개이지기인단핵감산다태성(SNP)위점,기중SNP rs3763043[G돌변위A:42.3％ (71/168)여34.0％(134/394),x2=0.032,P=0.016]급rs14393[C돌변위A:42.3％(71/168)여34.5％ (136/394),x2=0.044,P=0.022],여dbSNP수거비교돌변빈솔차이구유통계학의의.결론 AQP4 SNP여다수한족AQP4-IgG양성환자발병무명현상관성,단소수환자가능존재AQP4기인다태성개변.
Objectives To analyze the association between human aquaporin-4 (AQP4) gene polymorphisms with the disease susceptibility to neuromyelitis optica (NMO) and NMO spectrum disorders (NMOSD) with positive serum AQP4-IgG in Chinese.Methods Eighty-four NMO and NMOSD patients with positive AQP4-IgG were enrolled.Deoxyribonucleic acid disorders sequences of AQP4 gene functional region were amplified by polyme rase chain reaction disorders,analyzed by bidirectional sequencing,and compared with human AQP4 gene sequence in db single nucleotide polymorphisms (SNPs) to investigate the variant sites.Results (1) Nine novel variations with low frequency were observed.One was silent variant located in the exon2 region,and the rest 8 variations were in the regulation regions.No nonsynonymous mutation and no variation in the terminator codon or splice sites were found.(2)Fifteen known SNPs were detected in AQP4 functional regions.Among them,significant differences were found in the SNP rs3763043 (mutated from G to A:42.3％ (71/168) vs 34.0％ (134/394),x2 =0.032,P =0.016) and rs14393 (mutated from C to A:42.3％ (71/168) vs 34.5％ (136/394),x2 =0.044,P =0.022).Conclusions This explosive study shows that there is no causality between AQP4 polymorphism and patients with positive AQP4-IgG susceptibility in the majority of Han Chinese population.Nevertheless,some variant sites do exist in the minority of these patients.