Rapsyn第2外顯子基因多態(tài)性與重癥肌無力的相關(guān)性研究
發(fā)布時間：2018-12-15 13:30
【摘要】：目的：通過分析突觸受體相關(guān)蛋白(receptor-associated protein at the synapse, rapsyn)基因單核苷酸多態(tài)性(single nucleotide polymorphism, SNP),研究其與重癥肌無力(myasthenia gravis, MG)的關(guān)系,以期達到為MG患者發(fā)病機制提供新的依據(jù),且為MG的診斷治療提供新方法。 方法：應用rapsyn基因第2外顯子的引物,對31例MG患者和42例正常人的全血中提取的DNA做擴增,對擴增產(chǎn)物提純后測序,測序結(jié)果和野生型rapsyn基因第2外顯子基因進行比對,并分析存在的SNP與MG的關(guān)聯(lián)性。 結(jié)果：通過樣本測序結(jié)果與野生型rapsyn第2外顯子基因比對,發(fā)現(xiàn)存在SNP,對應的核苷酸序列由TAT變成了TAC,氨基酸仍為酪氨酸(Tyr)�；颊呓M有9例堿基T突變?yōu)镃,等位基因T的基因頻率為38.7%,等位基因C的基因頻率為61.3%。正常組有12例堿基T突變?yōu)镃,等位基因T的基因頻率為42.9%,等位基因C的基因頻率為57.1%。3種基因型TT、TC、CC在患者組(6.5%V64.5%V29.0%)和對照組(11.9%V61.9%V26.2%)中無顯著性差異,遺傳模式分析結(jié)果顯示,攜帶CC基因型對照組和患者組之間無顯著差異。統(tǒng)計學分析發(fā)現(xiàn)該SNP在患者組和正常組的基因型與等位基因頻率均無統(tǒng)計學意義,與MG的發(fā)病無相關(guān)性。 結(jié)論：rapsyn基因第2外顯子存在SNP,但通過統(tǒng)計學分析,此SNP在患者組和正常組的基因型與等位基因頻率均無差異,與MG的發(fā)病無相關(guān)性。但是仍需擴大樣本量進行研究。
[Abstract]:Objective: to study the relationship between synaptic receptor-associated protein (receptor-associated protein at the synapse, rapsyn) and myasthenia gravis (myasthenia gravis, MG) by single nucleotide polymorphism (single nucleotide polymorphism, SNP),). To provide a new basis for the pathogenesis of MG patients, and to provide a new method for the diagnosis and treatment of MG. Methods: using the primers of exon 2 of rapsyn gene, the DNA extracted from the whole blood of 31 patients with MG and 42 normal subjects were amplified. The amplified products were sequenced and sequenced. The results were compared with those of wild type rapsyn gene exon 2. The relationship between SNP and MG is analyzed. Results: by comparing the sequence of samples with that of wild type rapsyn exon 2, it was found that the nucleotide sequence corresponding to SNP, changed from TAT to TAC, amino acid and was still tyrosine (Tyr). In the patient group, the base T mutation was C, the allele T gene frequency was 38.7, and the allele C gene frequency was 61.3%. In normal group, there were 12 cases of base T mutation to C, allele T gene frequency was 42.9 and allele C gene frequency was 57.1.3 genotypes TT,TC,. There was no significant difference in CC between the patient group (6.5V 64.5V 29.0%) and the control group (11.9V 61.9V 26.2%). The results of genetic pattern analysis showed that there was no significant difference between the control group and the patient group with CC genotype. Statistical analysis showed that there was no significant difference in genotype and allele frequency of SNP between patient group and normal group, and there was no correlation between genotype and allele frequency of MG. Conclusion: there is SNP, in exon 2 of rapsyn gene. By statistical analysis, there is no difference in genotype and allele frequency of SNP between patient group and normal group, and there is no correlation between SNP and the pathogenesis of MG. But there is still a need to expand the sample size for research.
【學位授予單位】：延邊大學
【學位級別】：碩士
【學位授予年份】：2014
【分類號】：R746.1
本文編號：2380699
[Abstract]:Objective: to study the relationship between synaptic receptor-associated protein (receptor-associated protein at the synapse, rapsyn) and myasthenia gravis (myasthenia gravis, MG) by single nucleotide polymorphism (single nucleotide polymorphism, SNP),). To provide a new basis for the pathogenesis of MG patients, and to provide a new method for the diagnosis and treatment of MG. Methods: using the primers of exon 2 of rapsyn gene, the DNA extracted from the whole blood of 31 patients with MG and 42 normal subjects were amplified. The amplified products were sequenced and sequenced. The results were compared with those of wild type rapsyn gene exon 2. The relationship between SNP and MG is analyzed. Results: by comparing the sequence of samples with that of wild type rapsyn exon 2, it was found that the nucleotide sequence corresponding to SNP, changed from TAT to TAC, amino acid and was still tyrosine (Tyr). In the patient group, the base T mutation was C, the allele T gene frequency was 38.7, and the allele C gene frequency was 61.3%. In normal group, there were 12 cases of base T mutation to C, allele T gene frequency was 42.9 and allele C gene frequency was 57.1.3 genotypes TT,TC,. There was no significant difference in CC between the patient group (6.5V 64.5V 29.0%) and the control group (11.9V 61.9V 26.2%). The results of genetic pattern analysis showed that there was no significant difference between the control group and the patient group with CC genotype. Statistical analysis showed that there was no significant difference in genotype and allele frequency of SNP between patient group and normal group, and there was no correlation between genotype and allele frequency of MG. Conclusion: there is SNP, in exon 2 of rapsyn gene. By statistical analysis, there is no difference in genotype and allele frequency of SNP between patient group and normal group, and there is no correlation between SNP and the pathogenesis of MG. But there is still a need to expand the sample size for research.
【學位授予單位】：延邊大學
【學位級別】：碩士
【學位授予年份】：2014
【分類號】：R746.1
【參考文獻】
相關(guān)期刊論文 前1條
1 張星虎,許賢豪,王紅,王秀云,黃煜敏,劉廣志;重癥肌無力患者糖皮質(zhì)激素受體的觀察[J];中華內(nèi)科雜志;2000年10期
，本文編號：2380699
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