發(fā)布時間：2018-11-15 09:18

【摘要】：目的：通過了解山東地區(qū)漢族人群亞甲基四氫葉酸還原酶(methylenetetrahydrofolate reductase, MTHFR)基因C677Υ多態(tài)性與突發(fā)性耳聾患者發(fā)病的關系,探討該基因突變對突發(fā)性耳聾發(fā)病的作用,為研究突發(fā)性耳聾發(fā)病的病因及預防提供參考數(shù)據(jù)。 方法：采用聚合酶鏈反應-限制性片段長度多態(tài)性分析(PCR-RFLP)方法,對山東籍漢族80例突發(fā)性耳聾病人(SD組)及山東籍漢族100正常對照組的外周血MTHFR基因C677T進行基因分型,計算SD組與對照組的基因型頻率,以及該基因多態(tài)性與突發(fā)性耳聾發(fā)病的相關性。 結果：突發(fā)性耳聾(SD)組與對照組MTHFR基因C677T基因型頻率CC、CT、TT型分別為0.13、0.54、0.33及0.21、0.42、0.37,x2=3.694,兩組相比差異無顯著意義(P0.05)。SD組與對照組MTHFR的等位基因頻率分別為0.60和0.58,0.4和0.42,x2=0.147,兩組相比差異無顯著意義(P0.05)。TT純合突變基因型患突發(fā)性耳聾的風險是非TT型的0.867倍(OR=0.867、CI0.041-0.932、P0.05),CT雜合突變基因型患突發(fā)性耳聾的風險是非CT型的1.605倍(OR=1.605、CI0.782-3.248、P0.05)。 結論：1.突聾組與對照組在MTHFR基因型頻率分布與等位基因頻率分布的差異上均無統(tǒng)計學意義(P0.05)。 2MTHFRC677T基因突變可能不是山東漢族人突發(fā)性耳聾發(fā)病的遺傳危險因子,但考慮到選擇因素(數(shù)量、年齡、性別、人群等)的影響,值得進一步探討。 3MTHFR在山東漢族正常人群中突變等位基因T頻率為58%,突變率很高,此基因突變能否作為突發(fā)性耳聾或其他疾病的獨立的遺傳性危險因素,并被用來作為預測突發(fā)性耳聾或其他疾病的生物學指標,還需要擴大樣本進行更深人的研究。
[Abstract]:Objective: to investigate the relationship between the C677- 緯 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.
【學位授予單位】：青島大學
【學位級別】：碩士
【學位授予年份】：2012
【分類號】：R764.437

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