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万方数据 万方数据 万方数据 万方数据 万方数据人乙醛脱氢酶2基因*1/*2多态性与酒精性疾病作者：裘丽珍， 钟文涛， 龚兴国， QIU Lizhen， ZHONG Wentao， GONG Xingguo作者单位：浙江大学生物化学研究所,杭州市,310058刊名：医学分子生物学杂志英文刊名：JOURNAL OF MEDICAL MOLECULAR BIOLOGY年，卷(期)：2007,4(2)被引用次数：10次参考文献(39条)1.VASILIOU V;NEBERT D W Analysis and update of the human aldehyde dehydrogenase (ALDH) gene family 2005(02)2.YIN S J Alcohol dehydrogenase:enzymology and metabolism 1994(z2)3.GEMMA S;VICHI S;TESTAI E Individual susceptibility and alcohol effects:biochemical and genetic aspects 2006(01)4.YOSHIDA A;HSU L C;YASUNAMI M Genetics of human alcohol-metabolizing enzymes[外文期刊] 19915.CHEUNG C;DAVIES N G;HOOG J O Species variations in cutaneous alcohol dehydrogenases and aldehyde dehydrogenases may impact on toxicological assessments of alcohols and aldehydes[外文期刊] 2003(2-3)6.IKAWA M C;IMPRATIN C;WANG G Isolation and characterization of aldehyde dehydrogenase isozymes from usual and atypical human livers 1983(10)7.WANG R S;NAKAJIMA T;KAWAMOTO T Effects of aldehyde dehydrogenase-2 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1997(01)28.丁建华;吴建中;高长明乙醛脱氢酶2基因多态性和饮酒习惯与肝癌的易感性[期刊论文]-肿瘤 2004(4)29.YOKOYAMA A;KATO H;YOKOYAMA T Esophageal squamous cell carcinoma and aldehyde dehydrogenase-2 genotypes in Japanese females[外文期刊] 2006(03)30.JELSKI W;CHROSTEK L;SZMITKOWSKI M The activity of class Ⅰ,Ⅱ,Ⅲ and Ⅳ alcohol dehydrogenase isoenzymes and aldehyde dehydrogenase in breast cancer[外文期刊] 2006(02)31.GO V L;GUKOVSKAYA A;PANDOL SJ Alcohol and pancreatic cancer 2005(03)32.ISHIKAWA H;YAMANOTO H;TIAN Y Effects of ALDH2 gene polymorphisms and alcohol-drinking behavior on micronuclei frequency in non-smokers[外文期刊] 2003(1-2)33.SAKAMOTO T;HARA M;HIGAKI Y Influence of alcohol consumption and gene polymorphisms of ADH2 and ALDH2 on hepatocellular carcinoma in a Japanese population[外文期刊] 2006(06)34.LEWIS S J;SMITH G D Alcohol,ALDH2,and esophageal cancer:a meta-analysis which illustrates the potentials and limitations of a mendelian randomization approach[外文期刊] 2005(08)35.YOKOYAMA A;OMORI T Genetic polymorphisms of alcohol and 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JIANG Chun-xiao.ZHANG Yun中国汉族冠心病患者乙醛脱氢酶2基因多态性与心肌梗死的相关性研究[期刊论文]-山东大学学报（医学版）2007,45(8)2.张鹤.陈玉国.徐峰.薛丽.江春晓.张运.ZHANG He.CHEN Yu-guo.XU Feng.XUE Li.JIANG Chun-xiao.ZHANG Yun 乙醛脱氢酶2基因多态与硝酸甘油疗效相关性研究[期刊论文]-中华内科杂志2007,46(8)3.江春晓.陈玉国.张运.徐峰.张鹤.薛丽中国汉族冠心病患者乙醛脱氢酶2基因多态性与2型糖尿病的关系[期刊论文]-中国老年学杂志2007,27(4)4.李志祥.谢桂岚ALDH2基因第12外显子(G/A)多态性在北京汉族人群的检测[期刊论文]-中国现代医学杂志2005,15(3)5.张鹤中国汉族冠心病患者乙醛脱氢酶2基因多态性与硝酸甘油疗效的相关性研究[学位论文]20086.丁建华.吴建中.高长明.李苏平.周建农.曹海霞.苏平.周学富.丁保国.王如鸿乙醛脱氢酶2基因多态性和饮酒习惯与肝癌的易感性[期刊论文]-肿瘤2004,24(4)7.张竹梅.刘茶珍.边建超.汤伯明.江峰.王其军.王启敏.朱鑫.沈福民洛阳市汉族群体ADH2和ALDH2的基因多态性研究[期刊论文]-遗传2002,24(5)8.罗怀容.张亚平乙醛脱氢酶2(ALDH2)基因研究进展及其与饮酒行为的关系[期刊论文]-遗传2004,26(2)9.周文婷.李景鹏.崔羽.王晓燕.ZHOU Wen-ting.LI Jing-peng.CUI Yu.WANG Xiao-yan乙醇代谢酶基因多态性与酒精性肝病关系[期刊论文]-现代生物医学进展2007,7(9)10.赵吉.孙爱军.邹云增.王颖.张晨辉.黄薇.马会利.卢鑫.刘芳.葛均波.ZHAO Ji.SUN Ai-jun.ZOU Yun-zeng. WANG Ying.ZHANG Chen-hi.HUANG Wei.MA Hui-li.LU Xin.LIU Fang.GE Jun-bo ALDH2基因多态性与稳定型心绞痛患者硝酸甘油有效性关联的实验研究[期刊论文]-中国分子心脏病学杂志2010,10(2)引证文献(10条)1.姜齐宏.陈艳.肖政盐酸纳美芬联合地塞米松治疗双硫仑样反应41例[期刊论文]-医药导报 2013(7)2.夏祥敏20例双硫仑样反应诊治体会[期刊论文]-中国医学创新 2009(2)3.李海峰.孙明莉.于亚欣.刘宝华三磷酸胞苷二钠治疗头孢菌素致双硫仑样反应疗效观察[期刊论文]-中国中西医结合急救杂志 2011(6)4.彭超地塞米松联合生脉注射液治疗双硫仑样反应36例疗效观察[期刊论文]-云南中医中药杂志 2011(8)5.刘非凡.唐瑛.陈忠庆.唐忠智.王忠强.李军荛.李小平地塞米松治疗双硫仑样反应的临床和实验研究[期刊论文]-内科急危重症杂志 2008(4)6.贾振宇双硫仑样反应86例急诊救治体会[期刊论文]-蚌埠医学院学报 2011(11)7.王丽影.李增霞.张英.汤其群.查锡良八年制学生生物化学实验课程的改革[期刊论文]-中国高等医学教育2013(2)8.周正元.李建清.孙国祥.徐敏皋.徐晓燕ADH2、ALDH2 基因多态性及饮酒和胃癌关联的研究[期刊论文]-上海预防医学 2010(4)9.李莉.李成涛.赵书民.张素华.向平乙醇、乙醛慢代谢与酒后驾车肇事[期刊论文]-中国司法鉴定 2010(1)10.张成禄.于新发.谢健敏.王前.郑磊.曾方银.张鹏鼻咽癌患者乙醛脱氢酶2基因G1510A突变及酶活性研究[期刊论文]-检验医学与临床 2011(2)引用本文格式：裘丽珍.钟文涛.龚兴国.QIU Lizhen.ZHONG Wentao.GONG Xingguo人乙醛脱氢酶2基因*1/*2多态性与酒精性疾病[期刊论文]-医学分子生物学杂志 2007(2)。
ALDH2基因多态性检测项目简介：ALDH ( aldehyde dehydrogenase gene ) 人类乙醛脱氢酶，是一种四联体蛋白，催化乙醛和其他脂肪族醛氧化。
目前已发现ALDH 有19 种同工酶，主要有ALDH1～4 四种，其中ALDH2最为重要。
在肝和胃中具有很高的表达量，是乙醇代谢途径中最重要的酶之一。
ALDH2基因位于人类第12号染色体，由于ALDH2 基因存在G1510A 多态性，导致氨基酸序列第487位上的谷氨酸被赖氨酸所替换( Glu487 Lys)，其中具有催化活性的野生型称为G等位基因(ALDH2*1)，催化能力失活的变异型称为 A 等位基因(ALDH2*2)。
在亚洲的黄种人群中， ALDH2*2是频率最高且最重要的突变型。
临床用药医生应考虑的因素：ALDH2基因突变致乙醛脱氢酶活性下降引起的临床表现：1、ALDH2与硝酸甘油治疗：硝酸甘油是治疗心绞痛的经典药物，研究发现硝酸甘油的舒血管作用是通过释放一氧化氮（NO）所介导。
但临床上部分病人舌下含服硝酸甘油不能迅速有效地缓解心绞痛，使心肌严重缺血加重。
近来发现， ALDH2与硝酸甘油转化为NO密切相关。
有研究表明，ALDH2*1基因型的患者硝酸甘油治疗心绞痛的疗效明显优于ALDH2*2患者，且前者迅速起效率也明显高于后者。
2、ALDH2与酒精性疾病：乙醛脱氢酶( aldehyde dehydrogenase, ALDH)和乙醇脱氢酶( alcohol dehydrogenase, ADH) 在人体内共同组成了人乙醇脱氢酶系, 负责催化人体的乙醇分解代谢。
ALDH2在肝和胃中具有很高的表达量，是乙醇代谢途径中最重要的酶之一。
研究发现，突变型基因ALDH2*2的存在能导致ALDH2活力的严重缺失，并与过度饮酒导致的酒精依赖、酒精性中毒、酒精性肝病、消化道癌症等疾病之间存在深刻的联系。
过度的饮酒行为，不仅使ALDH2*2 携带者对酒精产生依赖，还可能引起肝癌等的酒精性肝病(alcoholic liver disease，ALD)。
•综述与讲座•乙醛脱氢酶2(ALDH2)基因多态性与酒精相关疾病的研究进展邱礼佳！,林贞葵！，陈慧怡！,李金花！,林梦琴!,梁少明！,刘伟"综述，郑桓！校审(1.肇庆医学高等专科学校，广东肇庆526000；2.6圳友一生物科技有限公司，广东深圳518115)摘要：酒与人类的生活密不可分，个体对酒精的敏感程度与其体内酒精代谢酶的活性有关即遗传基因有关*人体内乙醛脱氢酶2(ALDH2)的活性与人体饮酒后出现的各种不适症状之间存在关联*本文综述了乙醛脱氢酶2基因性及其相关疾病的发生机制*关键词：基因多态性；乙醛脱氢酶2(ALDH2)"疾病中图分类号:R446.1,R446.7文献标识码:A文章编号：1674-1129(2020)04-0611-04DOI:10.3969/j.issn.1674-1129.2020.04.002酒在中国人的宴席上有不可替代的作用,酒与人们的日常生活难解难分&适量的饮酒有助于促进人体新陈代谢，传承我国优良的酒文化&但现代人因学习压力或工作压力较大，不少人存在长期过度的酗酒或酒精依赖行，酒精有系的疾病发病率较叫等倒利用糖缺失性转铁蛋(CDT)、CDT/转铁蛋白(TRF)比助酒精性的8但人在2因性酒精的些疾病的发生。
人体饮酒，乙醇通过口腔、食道、胃肠道吸收,90%的过的吸收,过的代谢进入人体*卵的10%的乙醇则通过人体的呼吸作用、体代谢或其它方式排出身体[3]o1。
1ALDH21.1ALDH2的结构和存在部位人体内最常见的乙醛脱氢酶包括四种同工酶，即ALDH1-ALDH4,分不体上的因所编码。
ALDH2编码基因位于12号染色体(12q24.2),■有的因性叫ALDH2是一体，由基金项目:肇庆医学高等专科学校2019年度学生科技活动基金项目，编号2019XS04、2019XS05;广东省医学科研基金项目，编号A2018561作者简介:邱礼佳，男，199.年生。
