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背景:目前研究表明遗传因素在先天性髋脱位(congenitaldislocationofthehip,CDH)的发病中起重要作用。但迄今为止,从基因水平研究其发生机制报道较少。同源盒(homeobox,HOX)基因是胚胎发育和脊椎动物肢体发育的重要调控基因,因此推测HOX基因可能与CDH的发病有关。目的:探讨CDH与HOX基因是否存在相关性。设计:核心家系内对照关联研究。单位:一所大学医院的发育儿科、遗传研究室及小儿外科。对象:101个CDH核心家系303名成员均为中国医科大学第二临床学院小儿骨科病房1999-12/2001-01间全部住院CDH患者及其父母,所有患者均有典型的临床表现,经X射线检查及手术确诊。方法:在胚胎肢体发育调控相关基因-HOX基因A簇、B簇、C簇和D簇所在的染色体区域7P14-15,17q21,12q13和2q31内选择4个微卫星DNA标记D7S1808,D17S1820,D12S1686和Hox4EP,应用聚合酶链反应及变性聚丙烯酰胺凝胶电泳技术,对101个先天性髋脱位核心家系的303名成员进行基因型分析,并进行传递不平衡检验(TDT)。主要观察指标:确定101个CDH核心家系303名成员4个微卫星DNA标记D7S1808,D17S1820,D12S1686和Hox4EP的基因型,对父母传递和不传递给患者的等位基因进行传递不平衡检验。结果:在D12S1686多态性标记位点上共检测到16个等位基因,TDT分析显示,CDH与D
BACKGROUND: Current research shows that genetic factors play an important role in the pathogenesis of congenital dislocation of the hip (CDH). However, so far, there have been few reports on the mechanism of its occurrence at the genetic level. The homeobox (HOX) gene is an important regulator of embryonic development and vertebrate limb development. Therefore, it is speculated that the HOX gene may be involved in the pathogenesis of CDH. Objective: To investigate whether there is a correlation between CDH and HOX genes. Design: Internal controls in core pedigree. Unit: a university hospital developmental pediatrics, genetic research and pediatric surgery. PARTICIPANTS: A total of 303 101 CDH core family members were all hospitalized CDH patients and their parents in the pediatric orthopedic ward of the Second Clinical College of China Medical University from December 1999 to January 2001. All patients had typical clinical manifestations. The X-ray Inspection and surgical diagnosis. METHODS: Four microsatellite DNA markers, D7S1808, D17S1820, D12S1686 and D7S1686, were selected in the chromosome region 7P14-15, 17q21, 12q13 and 2q31 where AML, B, C and D clusters Hox4EP genotypes were analyzed using 303 polymerase chain reaction and denaturing polyacrylamide gel electrophoresis techniques in 101 congenital dislocation-bearing nuclear families and transmission disequilibrium test (TDT) was performed. MAIN OUTCOME MEASURES: The genotypes of four microsatellite DNA markers, D7S1808, D17S1820, D12S1686 and Hox4EP, were determined in 303 members of 101 CDH nuclear families and transmission disequilibrium tests were performed on alleles transmitted by parents and not delivered to patients. Results: A total of 16 alleles were detected at the D12S1686 polymorphism marker locus. TDT analysis showed that CDH and D