| 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 |
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投稿时间：2007-10-28
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| 作者 | Author | 单位 | Address | E-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 |
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| 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 |
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| 陈卫衡 |
CHEN Wei-heng |
中国中医科学院骨伤科研究所 |
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| 林娜 |
LIN Na |
中国中医科学院中药研究所 |
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| 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 |
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| 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 |
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| 期刊信息：《中国骨伤》2008年，第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) |
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中文摘要:
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 |
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| Effects of apolipoprotein A1 and B gene polymorphism on avascular necrosis of the femoral head in Chinese population |
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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. |
| KEY WORDS Femur head necrosis Apolipoprotein A1 Apolipoproteins B Gene polymorphism Restriction fragment length polymorphisms |
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| 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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