山東漢族人群亞甲基四氫葉酸還原酶基因（MTHFR） C677T基因多態(tài)性與突發(fā)性耳聾的關(guān)系
發(fā)布時(shí)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(guān)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(yù)防提供參考數(shù)據(jù)。 方法：采用聚合酶鏈反應(yīng)-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(jìn)行基因分型,計(jì)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(guān)性。 結(jié)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(fēng)險(xiǎn)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(fēng)險(xiǎn)是非CT型的1.605倍(OR=1.605、CI0.782-3.248、P0.05)。 結(jié)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(jì)學(xué)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(xiǎn)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(jìn)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(dú)立的遺傳性危險(xiǎn)因素,并被用來作為預(yù)測突發(fā)性耳聾或其他疾病的生物學(xué)指標(biāo),還需要擴(kuò)大樣本進(jìn)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(xué)位授予單位】：青島大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R764.437
本文編號：2332878
[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(xué)位授予單位】：青島大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R764.437
【參考文獻(xiàn)】
相關(guān)期刊論文 前9條
1 吳紅敏,殷善開,魯文鶯,于棟禎;凱時(shí)治療突發(fā)性聾伴耳鳴的臨床觀察[J];聽力學(xué)及言語疾病雜志;2004年04期
2 張成森,潘旭東,劉翠薇;中國青島漢族人群亞甲基四氫葉酸還原酶基因多態(tài)性分布研究[J];齊魯醫(yī)學(xué)雜志;2005年04期
3 葉輝,嚴(yán)江濤,邵嬌梅,張帆,洪茂林,汪道文;血漿同型半胱氨酸水平及亞甲基四氫葉酸還原酶基因突變與腦卒中關(guān)系的病例對照研究[J];中華流行病學(xué)雜志;2004年11期
4 郭辰虹,郭瓊行,龔瑤琴,陳丙璽,劉奇跡,李江夏,高貴敏,周海斌;亞甲基四氫葉酸還原酶基因C677T突變與山東漢族人群深靜脈血栓形成的相關(guān)性[J];中華醫(yī)學(xué)遺傳學(xué)雜志;2002年04期
5 劉福官,施建蓉,張懷瓊,馮愛成;王不留行治療突發(fā)性耳聾的臨床和實(shí)驗(yàn)研究[J];中國中西醫(yī)結(jié)合耳鼻咽喉科雜志;2000年01期
6 王玉芳;同型半胱氨酸致動脈粥樣硬化的機(jī)制[J];中國動脈硬化雜志;1998年03期
7 李莉英,姜德謙,劉趙云,羅玉梅;冠心病患者血漿同型半胱氨酸及亞甲基四氫葉酸還原酶C677T基因多態(tài)性[J];中國動脈硬化雜志;2005年02期
8 丁怡冰;;突發(fā)性耳聾研究新進(jìn)展[J];職業(yè)與健康;2007年18期
9 徐婭蘋,周君富,邢昌全;突發(fā)性耳聾罹患因素的分析[J];臨床耳鼻咽喉科雜志;2000年01期
，本文編號：2332878
本文鏈接：http://sikaile.net/yixuelunwen/wuguanyixuelunwen/2332878.html
最近更新
教材專著
