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刘丽英, 金春莲, 曹东华, 赵宁, 林长坤, 孙开来. 单纯性马蹄内翻足易感基因位点筛查[J]. 中国公共卫生, 2010, 26(4): 433-435. DOI: 10.11847/zgggws2010-26-04-26
引用本文: 刘丽英, 金春莲, 曹东华, 赵宁, 林长坤, 孙开来. 单纯性马蹄内翻足易感基因位点筛查[J]. 中国公共卫生, 2010, 26(4): 433-435. DOI: 10.11847/zgggws2010-26-04-26
LIU Li-ying, JIN Chun-lian, CAO Dong-hua, . Susceptibility gene location of idiopathic congenital talipes equinovarus[J]. Chinese Journal of Public Health, 2010, 26(4): 433-435. DOI: 10.11847/zgggws2010-26-04-26
Citation: LIU Li-ying, JIN Chun-lian, CAO Dong-hua, . Susceptibility gene location of idiopathic congenital talipes equinovarus[J]. Chinese Journal of Public Health, 2010, 26(4): 433-435. DOI: 10.11847/zgggws2010-26-04-26

单纯性马蹄内翻足易感基因位点筛查

Susceptibility gene location of idiopathic congenital talipes equinovarus

  • 摘要: 目的 将人类单纯性马蹄内翻足(ICTEV)易感基因初步定位,为进一步对其克隆提供基础依据.方法 选取与肢体发育、关节翻转及与软骨发育相关的基因作为候选基因,在基因内或其附近选取微卫星标记,应用PCR-短串联重复序列(STR)方法扩增微卫星片段,对84个ICTEV核心家系的252名成员进行基因型分析,并进行遗传连锁不平衡检验(TDT).结果 IX型胶原COL9A1基因(6q12-13区域)内及其附近的2个位点-D6S348及509-8B2经TDT检验表明,此2个位点与ICTEV有相关性(分别χ2=42.15,χ2=31.18,P<0.05);其他位点经TDT检验,不存在连锁不平衡(均P>0.05).结论 COL9A1基因可能是ICTEV的候选基因,从而将ICTEV易感基因初步定位于COL9A1基因所在的染色体区域6q12-13.

     

    Abstract: Objective To locate the susceptibility gene of human idio pathic congenital talipes equino varus(ICTEV) for further cloning of the gene.Methods A number of candidate genes were proposed as potential susceptibility loci for ICTEV.The genes were predominantly related with lmib develpment,joint turnover and encode structural proteins of the extracellular matrix.Each cand idate gene was targeted using one or mo re intragenic or closely linked microsa tellite marker.Genotypes of 252 members in 84 ICTEV families were analyzed with PCR STR technique.Then transmission disequilibrium test(TDT)was used to test the data of geno types.Results The analysis revealed that twoloci within or closely linked microsate llite marker of IX collagen gene COL9A1(6q12-13)were a ssociated with ICT EV,with a x2 value of 42.15 and 31.18(P<0.05).Conclusion COL 9A 1 gene maybe a candidate susceptive gene of ICTEV.The location of ICTEVs' susceptive genes is in chromo some 6q12-13.

     

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