Restriction fragment length polymorphism of genes of the alpha 2(XI) collagen, bone morphogenetic protein-2, alkaline phosphatase, and tumor necrosis factor-alpha among patients with ossification of posterior longitudinal ligament and controls from the Japanese population
Restriction fragment length polymorphism of genes of the alpha 2(XI) collagen, bone morphogenetic protein-2, alkaline phosphatase, and tumor necrosis factor-alpha among patients with ossification of posterior longitudinal ligament and controls from the Japanese population
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DOI：
10.1097/00007632-199602150-00011
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发表时间：
1996-02-15
期刊：
影响因子：
3
通讯作者：
Sakou, T
中科院分区：
文献类型：
--
作者：
Koga, H;Hayashi, K;Sakou, T
研究设计.本研究分析了后纵韧带骨化患者α 2（XI）胶原蛋白、骨形态发生蛋白-2、碱性磷酸酶和肿瘤坏死因子-α基因的限制性片段长度多态性模式。本研究旨在探讨后纵韧带骨化症患者骨诱导因子的遗传多态性，并与健康对照组进行比较。目的：阐明与后纵韧带骨化相关的遗传标记。背景资料总结。后纵韧带骨化症是一种与钙代谢异常相关的遗传性疾病，累及后纵韧带。以往的遗传学研究尚未确定后纵韧带骨化的病理机制。后纵韧带骨化的组织学研究和动物模型脊柱骨质增生小鼠显示XI型胶原和骨形态发生蛋白-2表达增加。对18例日本后纵韧带骨化症患者和51例健康无血缘关系的对照组进行了COL 11 A2、骨形态发生蛋白-2、碱性磷酸酶和肿瘤坏死因子-α基因的限制性内切酶长度多态性研究。用BamHI（10.0 kb片段）和HindIII（19.0 kb片段）获得的COL 11 A2基因频率在后纵韧带骨化症患者中观察到高于对照组（分别为0.43和0.14）。这些差异具有统计学显著性（BamHI P = 0.018; HindIII P = 0.046）。两个新的限制性片段长度多态性模式检测骨形态发生蛋白-2基因与MspI和TaqI和一个已知的限制性片段长度多态性模式的肿瘤坏死因子-α基因与Ncol。但与对照组相比无显著性差异。COL 11 A2基因存在7个限制性片段长度多态性。其中两种基因型（BamHI，10.0/10.0 kb基因型; HindIII，19.0/19.0 kb基因型）在后纵韧带骨化症患者中差异显著。
Study Design. The present study analyzed the restriction fragment length polymorphism patterns of alpha 2(XI) collagen, bone morphogenetic protein-2, alkaline phosphatase, and tumor necrosis factor-alpha genes in patients with ossification of the posterior longitudinal ligament. This study investigates the genetic polymorphism of bone-induced factors in patients with ossification of the posterior longitudinal ligament and compares it with healthy control subjects.Objectives. To clarify the genetic markers linked to ossification of the posterior longitudinal ligament.Summary of Background Data. Ossification of the posterior longitudinal ligament is a genetic disease associated with abnormal calcium metabolism involving the posterior longitudinal ligament. Previous genetic studies have not identified the pathologic mechanism of ossification of the posterior longitudinal ligament. Histopathologic studies of ossification of the posterior longitudinal ligament and the animal model, the spinal hyperostotic mouse, have revealed an increase in Type XI collagen and bone morphogenetic protein-2 expression.Methods. Eighteen Japanese patients with ossification of the posterior longitudinal ligament and 51 healthy, unrelated control subjects were investigated for the restriction fragment length polymorphism patterns of COL11A2, bone morphogenetic protein-2, alkaline phosphatase, and tumor necrosis factor-alpha, genes with various restriction endonucleases.Results. The gene frequencies of COL11A2 obtained with BamHI (10.0 kb fragment) and HindIII (19.0 kb fragment) observed in patients with ossification of the posterior longitudinal ligament were higher compared with control subjects (0.43 and 0.14, respectively). These differences were statistically significant (BamHI P = 0.018; HindIII P = 0.046). Two new restriction fragment length polymorphism patterns were detected of the bone morphogenetic protein-2 gene with MspI and TaqI and one already known restriction fragment length polymorphism pattern of the tumor necrosis factor-alpha gene with Ncol. However, they were not significantly different from the control subjects.Conclusion. Seven restriction fragment length polymorphisms of COL11A2 gene were identified. Two of them (BamHI, 10.0/10.0 kb genotype; HindIII, 19.0/19.0 kb genotype) were significantly different in patients with ossification of the posterior longitudinal ligament.