Basic Genetic Studies Related to OPLL

为了确定OPLL的基因座，为OPLL的DNA诊断提供依据，对OPLL患者的7个血型、6个血清蛋白群和3个红细胞酶系统的16个遗传标记与基因连锁进行了研究。研究了11个家系，共47个个体，进行了X射线检查和遗传标记。其中9个家系研究超过2代，1个家系研究超过3代。OPLL经2个家系2代以上确诊。3代以上均未发现确诊病例。在OPLL病例中，由于发病较晚，第三代患者年龄太小，不能表现出疾病。因此，OPLL的连锁分析是不可能的。在发病较晚的疾病中，一次性检查似乎不足以确认疾病的存在或不存在。每隔5至10年进行一次重复的定期检查。染色体分析结果显示无明显染色体异常，定位与OPLL的发生或发展有关。

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.