Grange D K, Lewis M B, Marini J C
Unit on Connective Tissue Disorders, National Institute of Child Health and Human Development, Bethesda, MD 20892.
Am J Med Genet. 1990 Jun;36(2):258-64. doi: 10.1002/ajmg.1320360223.
We examined collagens produced by cultured cells from skin, chorionic villi, and placental membranes of a 32 week fetus with osteogenesis imperfecta (OI) type II. We observed that skin fibroblasts synthesized two populations of pro alpha 1(I) chains of type I procollagen; one population was normal, while the other population had excessive post-translational modification. The thermal stability of helices containing the overmodified chains was reduced 1-2 degrees C. Most significantly, the cells cultured from chorionic villi produced type I collagen chains with the same electrophoretic abnormalities as the skin collagen. This suggests that chorionic villus sampling (CVS) is a means of prenatal diagnosis for families with a previous type II or type IV OI infant.
我们检测了一名32周龄II型成骨不全（OI）胎儿的皮肤、绒毛膜绒毛和胎盘膜的培养细胞所产生的胶原蛋白。我们观察到，皮肤成纤维细胞合成了两种I型前胶原的前α1（I）链群体；一个群体是正常的，而另一个群体有过度的翻译后修饰。含有过度修饰链的螺旋结构的热稳定性降低了1-2摄氏度。最显著的是，从绒毛膜绒毛培养的细胞产生的I型胶原链具有与皮肤胶原相同的电泳异常。这表明绒毛膜绒毛取样（CVS）是有II型或IV型OI患儿病史家庭的一种产前诊断方法。
