中国医科大学学报

中国医科大学学报

中国医科大学学报 ›› 2012, Vol. 41 ›› Issue (4): 333–335.

• 临床医学 • 上一篇    下一篇

1个多发性椎间盘退行性变疾病家系的Aggrecan基因串联重复多态性的分析

丛琳1,屠剑桥2,李雨辰3,屠冠军1   

  1. 1.中国医科大学附属第一医院骨科,沈阳 110001;2.中国医科大学96期预防医学系15班,沈阳 110001;3.中国医科大学96期医学影像系13班,沈阳 110001
  • 收稿日期:2012-09-24 修回日期:2012-09-24 出版日期:2012-04-20 发布日期:2012-09-26

Testing the Distribution of Aggrecan Gene VNTR in a Family of Multiple Degenerative Disc Disease

CONG Lin1, TU Jian-qiao2, LI Yu-chen3, TU Guan-jun1   

  1. (1. Department of Orthopeadics, the The First Affiliated Hospital, China Medical University, Shenyang 110001, China; 2. Class 15, Grade 96, Department of Preventive Medicine, Grade 96, Class 15,China Medical University, Shenyang 110001, China; 3. Class 13, Grade 96, Department of Medical Image, Grade 96, Class 13, China Medical University, Shenyang 110001, China)
  • Received:2012-09-24 Revised:2012-09-24 Online:2012-04-20 Published:2012-09-26

摘要: 目的 分析1个多发性椎间盘退行性变疾病(DDD)家系的聚合蛋白聚糖(Aggrecan)基因串联重复多态性(VNTR)。方法 应用PCR技术检测家系成员血液中Aggrecan VNTR的分布情况。结果 被检测的家系成员中未发现超过25次重复的等位基因者,家系患DDD成员基因Aggrecan VNTR分布:均为杂合子,且有1个等位基因≤20个重复序列。结论 本家系中遗传因素是DDD的主要诱发因素,且可能与相对较小重复序列Aggrecan VNTR有关。

关键词: 关键词 椎间盘退行性变疾病, 遗传因素, 聚合蛋白聚糖, 串联重复多态性

Abstract: Abstract Objective To analyze distribution of aggrecan Gene VNTR in a Ffamily of Mmultiple degenerative disc disease. Methods Four members of a family lived living in the different areas when they were underage. They were engaging engaged with various jobs. They were all suffered from degenerative disc disease. The aggrecan gene VNTR region was analyzed by PCR. Results There were no participants with more than 25 allele repeats in this Ffamily. All degenerative disc disease patients in this family are were heterozygous with 1 alleles ≤ 20 repeats. Conclusion Genetic factors is the main causative factor of degenerative disc disease in this family. In addition, this study observed an association between the lower tendency of allele repeats distribution of aggrecan gene VNTR polymorphism with degenerative disc disease.

Key words: Degenerative disc disease, Genetic factors, Aggrecan, VNTR

中图分类号: 

  • R681.5+7 文献标志码 A 文章编号
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