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载脂蛋白A1、B基因多态性对非创伤性股骨头坏死发生的影响
Hits: 2281   Download times: 1333   Received:October 28, 2007    
作者Author单位UnitE-Mail
汪晓燕 WANG Xiao-yan 中国中医科学院基础理论研究所,北京 100700
中国中医科学院医学实验中心
The Institute of Basic Theory of China Academy of Chinese Medical Science,Beijing 100700,China  
牛晓红 NIU Xiao-hong 中国中医科学院基础理论研究所,北京 100700
中国中医科学院医学实验中心
The Institute of Basic Theory of China Academy of Chinese Medical Science,Beijing 100700,China  
陈卫衡 CHEN Wei-heng 中国中医科学院骨伤科研究所  
林娜 LIN Na 中国中医科学院中药研究所  
宋剑南 SONG Jian-nan 中国中医科学院基础理论研究所,北京 100700 The Institute of Basic Theory of China Academy of Chinese Medical Science,Beijing 100700,China sjn2003@sina.com 
陈冰 CHEN Bing 中国中医科学院基础理论研究所,北京 100700 The Institute of Basic Theory of China Academy of Chinese Medical Science,Beijing 100700,China  
金红 JIN Hong 中国中医科学院基础理论研究所,北京 100700 The Institute of Basic Theory of China Academy of Chinese Medical Science,Beijing 100700,China  
期刊信息:《中国骨伤》2008年21卷,第2期,第99-102页
DOI:doi:10.3969/j.issn.1003-0034.yyyy.nn.zzz
基金项目:国家自然科学基金资助项目(编号:30271565)


目的:探讨载脂蛋白A1、B基因多态性对非创伤性股骨头坏死(avascular necrosis of the femoral head, ANFH)发生的影响。

方法:应用聚合酶链反应对中国北方汉族143例ANFH患者和92例正常人分别扩增含Apo A1基因启动子-75 bp和第一内含子+83 bp及Apo B基因Eco RI、Xba I和3'-VNTR的DNA片段,限制性内切酶酶切扩增产物,琼脂糖凝胶电泳分离基因多态性。

结果:Apo A1基因启动子-75 bp处,ANFH患者中A/A基因型频率明显高于正常组(P<0.01),而G/A基因型频率明显低于正常组(P<0.01).Apo A1内含子+83 bp位点,Apo B基因Eco RI、Xba I位点和3'-VNTR区域ANFH患者组和正常组基因型及等位基因频率分布无统计学差异。

结论:Apo A1基因启动子区域-75bp位点A/A型可能是非创伤性股骨头坏死易感基因之一,但未能发现Apo A1第一内含子+83 bp位点及Apo B基因Eco RI、Xba I和3'-VNTR位点多态性与非创伤性股骨头坏死发生有明显的关系。
[关键词]:股骨头坏死  载脂蛋白A1  载脂蛋白B类  基因多态性  限制性片段长度
 
Effects of apolipoprotein A1 and B gene polymorphism on avascular necrosis of the femoral head in Chinese population
Abstract:

Objective: To investigate the effects of Apo A1 and B gene polymorphism on avascular necrosis of the femoral head(ANFH)in north Chinese Han population.

Methods: Polymerase chain reaction-restriction fragment length polymorphisms(PCR-RFLP)technique was used in samples of 143 cases with documented ANFH and 92 healthy control matched by age and sex individ uals selected from north Chinese Han nationality. The studied loci include promoter region(-75bp)and the intron 1(+83 bp)of Apo A1 gene,Eco RI,Xba I of Apo B gene;polymerase chain reaction was used to study 3'-VNTR of Apo B gene.

Results: At -75 bp in promoter,the frequency of A/A genotype in ANFH group was significantly higher than that in control group(P<0.01),while the frequency of G/A genotype in ANFH group was significantly lower than that in control group(P< 0.01). No difference was found in the frequency of genotype at +83bp in intron 1 of Apo A1 gene,Eco RI,Xba I and 3'-VNTR loci of Apo B gene.

Conclusion: Apolipoprotein A1 gene A/A substitution at position -75 in promotor is associated with ANFH,the mutation may be one of the sensitive genes of ANFH,first reported inside and abroad. But no evident relationship was found between gene polymorphism of +75 bp loci of Apo A1 gene,Eco RI loci of Apo B gene,Xba I loci of Apo B gene or 3'-VNTR of Apo B gene and ANFH.
KEYWORDS:Femur head necrosis  Apolipoprotein A1  Apolipoproteins B  Gene polymorphism  Restriction fragment length polymorphisms
 
引用本文,请按以下格式著录参考文献:
中文格式:汪晓燕,牛晓红,陈卫衡,林娜,宋剑南,陈冰,金红.载脂蛋白A1、B基因多态性对非创伤性股骨头坏死发生的影响[J].中国骨伤,2008,21(2):99~102
英文格式:WANG Xiao-yan,NIU Xiao-hong,CHEN Wei-heng,LIN Na,SONG Jian-nan,CHEN Bing,JIN Hong.Effects of apolipoprotein A1 and B gene polymorphism on avascular necrosis of the femoral head in Chinese population[J].zhongguo gu shang / China J Orthop Trauma ,2008,21(2):99~102
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