山东汉族人群亚甲基四氢叶酸还原酶基因（MTHFR） C677T基因多态性与突发性耳聋的关系

发布时间：2018-11-15 09:18

【摘要】：目的：通过了解山东地区汉族人群亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase, MTHFR)基因C677Υ多态性与突发性耳聋患者发病的关系,探讨该基因突变对突发性耳聋发病的作用,为研究突发性耳聋发病的病因及预防提供参考数据。方法：采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)方法,对山东籍汉族80例突发性耳聋病人(SD组)及山东籍汉族100正常对照组的外周血MTHFR基因C677T进行基因分型,计算SD组与对照组的基因型频率,以及该基因多态性与突发性耳聋发病的相关性。结果：突发性耳聋(SD)组与对照组MTHFR基因C677T基因型频率CC、CT、TT型分别为0.13、0.54、0.33及0.21、0.42、0.37,x2=3.694,两组相比差异无显著意义(P0.05)。SD组与对照组MTHFR的等位基因频率分别为0.60和0.58,0.4和0.42,x2=0.147,两组相比差异无显著意义(P0.05)。TT纯合突变基因型患突发性耳聋的风险是非TT型的0.867倍(OR=0.867、CI0.041-0.932、P0.05),CT杂合突变基因型患突发性耳聋的风险是非CT型的1.605倍(OR=1.605、CI0.782-3.248、P0.05)。结论：1.突聋组与对照组在MTHFR基因型频率分布与等位基因频率分布的差异上均无统计学意义(P0.05)。 2MTHFRC677T基因突变可能不是山东汉族人突发性耳聋发病的遗传危险因子,但考虑到选择因素(数量、年龄、性别、人群等)的影响,值得进一步探讨。 3MTHFR在山东汉族正常人群中突变等位基因T频率为58%,突变率很高,此基因突变能否作为突发性耳聋或其他疾病的独立的遗传性危险因素,并被用来作为预测突发性耳聋或其他疾病的生物学指标,还需要扩大样本进行更深人的研究。
[Abstract]:Objective: to investigate the relationship between the C677- 纬 polymorphism of methylenetetrahydrofolate reductase (methylenetetrahydrofolate reductase, MTHFR) gene and the incidence of sudden deafness in Shandong Han population, and to explore the role of this mutation in the pathogenesis of sudden deafness. To provide reference data for studying the etiology and prevention of sudden deafness. Methods: polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used. The genotypes of MTHFR gene C677T in peripheral blood of 80 patients with sudden deafness in Shandong Han nationality (SD group) and 100 normal controls of Shandong Han nationality were genotyped. The genotype frequencies of SD group and control group were calculated. And the association of this gene polymorphism with sudden deafness. Results: the frequency of MTHFR gene C677T genotype CC,CT,TT genotype in (SD) group and control group was 0.130.54 0.33 and 0.21 ~ 0.42 ~ 0.37 X ~ (2) 3.694, respectively. There was no significant difference between the two groups (P0.05) the allele frequencies of MTHFR in). SD group and control group were 0.60 and 0.580.4,0.42 脳 2 + 0.147, respectively. There was no significant difference between the two groups (P0.05) the risk of sudden deafness in homozygous genotype of). TT was 0.867 times higher than that of non-TT type (OR=0.867,CI0.041-0.932,P0.05). The risk of sudden deafness in the CT heterozygous genotype is 1.605 times higher than that of the non-CT genotype (OR=1.605,CI0.782-3.248,P0.05). Conclusion 1. There was no significant difference in MTHFR genotype frequency distribution and allele frequency distribution between sudden deafness group and control group (P0.05). The mutation of 2MTHFRC677T gene may not be a genetic risk factor for sudden deafness in Shandong Han population, but considering the influence of selection factors (quantity, age, sex, population, etc.), it is worth further study. The T frequency of 3MTHFR mutation allele in Shandong Han population is 58 and the mutation rate is very high. Can this gene mutation be an independent genetic risk factor for sudden deafness or other diseases? It is also used as a biological marker for predicting sudden deafness or other diseases.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R764.437

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