Basic Genetic Studies Related to OPLL

与后纵韧带骨化相关的基础遗传学研究

• 批准号: 02454343
• 负责人: FURUYA Kohtaro
• 金额: $ 3.71万
• 依托单位: Tokyo Medical and Dental 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: 1990
• 资助国家: 日本
• 起止时间: 1990 至 1992
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-02454343/
• 关键词: OPLL; Linkage Analysis; Blood Groops; Genetic Markers; Gene Locus; Chromosome; DNA-Diagnosis; 遺伝(Genetics); 遺伝マ-カ-(genetic marker); 染色体分析(chromosomal analysis); 血液型(blood groups); 遺伝研究(Genetic studies); 血液型(brood groups); 遺伝マ-カ-(Genetic marke

In an attempt to identity the gene locus for OPLL, and to develop the basis for diagnosis by DNA analysis, the linkage between the genes in OPLL cases and 16 genetic markers, from 7 blood groups 6 serum protein groups and 3 erythrocyte enzyme systems were studied. Eleven families were studied, with a total of 47 individuals who were examined by X-ray and for genetic markers. Nine of the families were studied over 2 generations, and one family over 3 generations. OPLL was confirmed over 2 generations in 2 families. There were no confirmed cases seen over 3 generations. Because of late onset of disease in the case of OPLL, the third generation was too young to express the disease. Linkage analysis of OPLL was therefore not possible. In diseases with late onset, a one-time examination would not appear to be adequate for confirmation of diseases' presence or absence. Repeated periodic examinations with 5 to 10 year intervals appear to be indicated. Results of chromosomal analysis showed no chromosomal aberrations significantly and directory related to OPLL onset or development.

为了明确OPLL的基因位点，为DNA分析诊断OPLL奠定基础，本文对OPLL患者的基因与7种血型、6种血清蛋白组和3种红细胞酶系统的16个遗传标记进行了连锁分析。11个家庭进行了研究，共有47个人进行了X射线检查和遗传标记。其中9个家庭的研究超过2代，1个家庭超过3代。2个家系经2代证实存在OPLL。三代以上未发现确诊病例。由于OPLL发病较晚，第三代太年轻，无法表达疾病。因此，不可能对OPLL进行连锁分析。对于迟发性疾病，一次性检查似乎不足以确认是否存在疾病。似乎需要每隔5至10年进行一次重复定期检查。染色体分析结果显示，未发现与OPLL发生或发展有关的染色体异常。

项目成果

古屋 光太郎、中嶋 八郎、古庄 敏行 ほか: "後縦靭帯骨化症の遺伝学的研究" 整形外科. 41. 13-22 (1990)

Kotaro Furuya、Hachiro Nakajima、Toshiyuki Furusho 等：“后纵韧带骨化的遗传学研究”骨科。 41. 13-22 (1990)

Tanigawa E,Furuya K,and Nakajima H.: "Genetic Study on Ossification of Posterior Longiteedinal Ligament" The Bulletin of Tokyo Medical and Dental University. 33. 117-128 (1986)

谷川E、古谷K、中岛H.：“后纵韧带骨化的遗传学研究”东京医科齿科大学通报。

Tanikawa.E.,Furuya.K,and Nakajima,H.: "Genetic Studyon Ossification of Posterion Longitu dinal Ligament." The Bulletin of Tokyo Medical and Dental Unio.33. 117-128 (1986)

Tanikawa.E.、Furuya.K 和 Nakajima,H.：“后纵韧带骨化的遗传学研究”。

古屋 光太郎、岡本 昭彦、中嶋 八良、古庄 敏行 他: "後縦靭帯骨化症の遺伝学的研究" 整形外科. 41. 13-22 (1990)

Kotaro Furuya、Akihiko Okamoto、Yara Nakajima、Toshiyuki Furusho 等：“后纵韧带骨化的遗传学研究”骨科。 41. 13-22 (1990)