1个多发性椎间盘退行性变疾病家系Aggrecan基因串联重复多态性的分析  

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

作　　者：丛琳[1] 屠剑桥[2] 李雨辰[3] 屠冠军[1] 

机构地区：[1]中国医科大学附属第一医院骨科,沈阳110001 [2]中国医科大学预防医学系,96期15班沈阳110001 [3]中国医科大学医学影像系,96期13班沈阳110001

出　　处：《中国医科大学学报》2012年第4期333-335,共3页Journal of China Medical University

基　　金：国家自然科学基金资助项目(81070971);辽宁省教育厅高校科研计划(L2010710)

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Aggrecan基因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。Objective To analyze the distribution of Aggrecan gene VNTR in a family of multiple degenerative disc disease.Methods Four members of a family living in different areas when they were underage.They were engaged with various jobs.They all suffered from degenerative disc disease.The Aggrecan gene VNTR region was analyzed by PCR.Results There was no participant with more than 25 allele repeats in this family.All degenerative disc disease patients in this family were heterozygous with 1 allele ≤ 20 repeats.Conclusion Genetic factor is the main causative factor of degenerative disc disease in this family.In addition,this study observed an association between the low tendency of allele repeats distribution of Aggrecan gene VNTR polymorphism with degenerative disc disease.

关 键 词：椎间盘退行性变 重复多态性 病家系 N基因 多发性 串联 AGGRECAN VNTR 

分 类 号：R681.57[医药卫生—骨科学]