Analysis of cultured chorionic villi in a case of osteogenesis imperfecta type II: implications for prenatal diagnosis.
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.
Grange
D K
DK
Unit on Connective Tissue Disorders, National Institute of Child Health and Human Development, Bethesda, MD 20892.
Lewis
M B
MB
Marini
J C
JC
D002478:Cells, Cultured; D015193:Chorionic Villi Sampling; D003094:Collagen / Q000032:analysis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010013:Osteogenesis Imperfecta / Q000151:congenital / Q000175:diagnosis* / Q000473:pathology; D010920:Placenta / Q000032:analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011347:Procollagen / Q000032:analysis; D012867:Skin / Q000032:analysis
D011347:Procollagen; D003094:Collagen