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DNA analysis by pulsed field gel electrophoresis for ossification of the posterior longitudinal ligament.

通过脉冲场凝胶电泳进行后纵韧带骨化的 DNA 分析。

基本信息

批准号：
04454378
负责人：
SAKOU Takashi
金额：
$ 3.46万
依托单位：
Kagoshima University
依托单位国家：
日本
项目类别：
Grant-in-Aid for General Scientific Research (B)
财政年份：
1992
资助国家：
日本
起止时间：
1992 至 1994
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-04454378/
关键词：
Gene analysis OPLL gene RELP Collagen alpha2 HLA haprotype 6th chromosome RFLP解析 OPLL病因遺伝子 ALP BMP-2 TNF-alpha CoL llalpha2 後縦靭帯骨化症 HLAタイピング遺伝解析 HLA遺伝子遺伝的多型

项目摘要

We attempted to identify the genes responsible for OPLL by means of DNA analysis of the families of patients with this disease. Lymphocytes were collected from a total of 40 members of 10 families for subsequent genetic analysis. Family members who shared a common HLA haplotype with the patient were found to have a high incidence of ossification of the posterior longitudinal ligament by X-ray examination. This finding suggests that some genetic factors, linked to HLA haplotypes, are involved in the onset of OPLL.We attempted to confirm the presence of this gene by searching for polymorphism of restriction fragments in the members of each patient's family, using a large DNA electrophoresis apparatus. This analysis revealed that the siblings who shared a common HLA haplotype with the patient often showed polymorphism of the 2.7 Kb DNA fragment on chromosome 6. We compared polymorphism of the 2.7 KB DNA fragmetn on chromosome 6 between patinets with OPLL and 40 healthy volunteers. This comparison, however, did not resolve the question of whether or not polymorphism of the 2.7 Kb DNA fragment is specific to OPLL patients.We also analyzed the genetic polymorphism of alkaline phosphatase (ALP), bone morphogenic protein (BMP)-2, collagen alpha-2 and tissue necrosing factor (TNF)-alpha. This revealed that the incidence of polymorphism of the gene of collagen alpha-2 differs significantly between the OPLL group and the healthy controls. It is possible that polymorphism of collagen alpha-2 gene is rosponsible for the onset of OPLL.The present stufy was the first DNA analysis of OPLL.We believe this study has served as pioneering work in the study of the etiology of OPLL,using the methods of molecular biology.

我们试图通过对患有这种疾病的患者家属进行 DNA 分析来确定导致 OPLL 的基因。采集10个家族共40名成员的淋巴细胞用于后续基因分析。 X线检查发现与患者有共同HLA单倍型的家庭成员后纵韧带骨化发生率较高。这一发现表明，一些与 HLA 单倍型相关的遗传因素与 OPLL 的发病有关。我们试图通过使用大型 DNA 电泳仪在每个患者家庭成员中搜索限制性片段的多态性来确认该基因的存在。该分析显示，与患者具有共同 HLA 单倍型的兄弟姐妹经常表现出 6 号染色体上 2.7 Kb DNA 片段的多态性。我们比较了 OPLL 患者和 40 名健康志愿者之间 6 号染色体上 2.7 KB DNA 片段的多态性。然而，这种比较并没有解决2.7 Kb DNA片段的多态性是否是OPLL患者特有的问题。我们还分析了碱性磷酸酶（ALP）、骨形态发生蛋白（BMP）-2、胶原蛋白α-2和组织坏死因子（TNF）-α的遗传多态性。这表明OPLL组和健康对照之间胶原蛋白α-2基因多态性的发生率存在显着差异。胶原蛋白α-2基因的多态性可能与OPLL的发生有关。本研究是首次对OPLL进行DNA分析。我们相信这项研究是利用分子生物学方法研究OPLL病因学的开创性工作。