Sadovnick A D
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Ann Neurol. 1994;36 Suppl:S18-21. doi: 10.1002/ana.410360707.
Since the inception of the MS Clinic, Vancouver Hospital and Health Sciences Centre, all consecutive, unrelated patients with multiple sclerosis (MS) have had their family histories documented by the Clinic's geneticist as part of the overall assessment. The family histories are updated annually. These data, along with the longitudinal clinical information on each patient, have resulted in a unique resource for clinical genetic/genetic epidemiological/molecular genetic research on MS. Analyses of these data have included the calculation of age-adjusted familial risks for MS; genetic modeling, necessary for molecular genetic research; and family studies involving affected relative pairs, studies of the nontransmitted parental haplotypes, and multiplex families. The results of the work to date are discussed. In addition, the impact of these data on the development of the Canadian Collaborative Project on Genetic Susceptibility to Multiple Sclerosis is reviewed. This project involves all 14 MS "sites" across Canada, and the study's overall objective is to elucidate the roles of genetic and environmental factors in the causation of MS.
自温哥华医院及健康科学中心多发性硬化症诊所成立以来,诊所的遗传学家将所有连续的、无亲属关系的多发性硬化症(MS)患者的家族病史记录在案,作为整体评估的一部分。家族病史每年更新一次。这些数据,连同每位患者的纵向临床信息,形成了一个独特的资源,用于MS的临床遗传/遗传流行病学/分子遗传学研究。对这些数据的分析包括计算MS的年龄调整家族风险;分子遗传学研究所需的遗传建模;以及涉及患病亲属对的家族研究、未传递的亲代单倍型研究和多位点家族研究。讨论了迄今为止的工作结果。此外,还回顾了这些数据对加拿大多发性硬化症遗传易感性合作项目发展的影响。该项目涉及加拿大各地的所有14个MS“研究点”,研究的总体目标是阐明遗传和环境因素在MS病因中的作用。