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结缔组织方面的遗传病,近年用生化学方法已阐述得很精细。这些疾病的病状对结缔组织代谢研究提供了很好的材料。然而这些遗传病是少见的,仅就这点来说恐怕只能停留在研究的兴趣中。但结缔组织中的胶原是机体的主要构成成分,轻微的生化学改变,在长期生活中蓄积,就可能成为关节炎、骨质疏松或动脉硬化症的发病基础。换言之,遗传性结缔组织疾病是阐明常见的成年人疾病的病理生理实验模型。在英国,每年死于 Willis 环先天性动脉瘤的4000例中,就有Ⅰ型胶原缺损。另外,对这些遗传病用羊水生化学方法也
Genetic diseases of the connective tissue, in recent years with biochemical methods have been elaborated very fine. The conditions of these diseases provide good material for the study of connective tissue metabolism. However, these genetic diseases are rare, and I am afraid that I can only stay in the study of interest. However, connective tissue collagen is the main component of the body, a slight biochemical changes in the accumulation of long-term life, it may become the basis for the pathogenesis of arthritis, osteoporosis or atherosclerosis. In other words, hereditary connective tissue disease is a pathophysiological experimental model that elucidates common adult diseases. In the UK, type I collagen defects occur each year in 4000 cases of Willis ring congenital aneurysm. In addition, these genetic diseases with amniotic fluid biochemical methods also