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成骨不全(OI)系一种表现为骨脆症和全身性细胞外基质异常的遗传病。被Sillence等(1979)分为4型,其中以Ⅱ型最严重,伴有明显的骨脆症和畸形,常因呼吸机能不全死于产前。本文采用绒毛取样检测法(CVS),研究证实1例Ⅱ型OI病儿。病儿为孕32周顺产女婴,重1 080g,产后不久死亡。孕19周时超声疑为OI胎儿,生后检查及X线示为典型的Ⅱ型OI改变。取死婴皮肤、胎膜和绒毛(CV)及其双亲的皮肤和相匹配的CV作细胞培养并对照。用~3H脯氨酸作蛋白放射性标记、自体荧光照相,制备原胶原和胶原,行电泳检测和制热变性曲线。结果表明,OI胎儿细胞电泳可见二种原胶原
Osteogenesis imperfecta (OI) is a genetic disease that manifests as a result of bone defects and systemic extracellular matrix abnormalities. Sillence et al. (1979) divided into 4 types, of which type Ⅱ is the most serious, accompanied by significant bone crisp and deformities, often due to respiratory insufficiency died of prenatal. In this paper, villus sample detection (CVS), the study confirmed a type Ⅱ OI sick children. 32-week-old pregnant child baby girl, weight 1 080g, died soon after delivery. 19 weeks pregnant ultrasound suspected OI fetus, postnatal examination and X-ray showed a typical type II OI changes. The fetal skin, fetal membranes and villi (CV) and their parents’ skin and matched CVs were cultured and compared to the controls. Using ~ 3H proline as a protein radioactive label, autofluorescence photography, procollagen and collagen preparation, line electrophoresis detection and heat denaturation curve. The results show that, OI fetal cell electrophoresis shows two kinds of procollagen