Gruemer H D, Prior T
Clin Chim Acta. 1987 Jan 15;162(1):1-18. doi: 10.1016/0009-8981(87)90227-0.
The clinical chemistry laboratory has traditionally played a passive role in the application of technology to diagnostic interpretation. Recent developments offer the clinical laboratorian a renewed potential to enter the patient care arena as a consultant. Our lack of understanding of the disease processes in the muscular dystrophies places emphasis on prevention through carrier detection. This review summarizes the clinical progress of the disease, our present understanding of the genetics that control the mode of inheritance of the disease, and the analytical approaches to carrier detection, including their advantages and limitations. Recent advances allow the examination of the genetic material itself instead of concentrating on the phenotypic expression of biochemical abnormalities.
临床化学实验室在将技术应用于诊断解读方面传统上一直扮演着被动角色。最近的进展为临床检验人员提供了作为顾问进入患者护理领域的新潜力。我们对肌肉萎缩症疾病过程的理解不足，这使得通过携带者检测进行预防成为重点。这篇综述总结了该疾病的临床进展、我们目前对控制疾病遗传模式的遗传学的理解，以及携带者检测的分析方法，包括其优点和局限性。最近的进展使得可以检查遗传物质本身，而不是专注于生化异常的表型表达。
