Type I 콜라젠 DNA의 RFLP를 보인 Ehlers-Danlos 증후군 1예 = A Case of Ehlers-Danlos Syndrome with RFLP of Type I Collagen DNA

다국어 초록 (Multilingual Abstract)

Ehlers Danlos syndrome (EDS) type Ⅳ is a rare and catastrophic genetic disorder of the connective tissue. Its genetic defect was very heterogenous in collagen proα(Ⅲ) at each proband family. But common mechanism of this disorder was gene defects of type Ⅲ collagen gene.
We report a caw of 20 year-old woman with a hypermobility of the multiple joints, hyperextensability of the skin and large scar of skin at pressure sites. We confirmed decrease collagen synthesis in cultured fibroblasts of the patients, and detected RFLP of type Ⅰcollagen gene by Southern blot anaysis. A loss of 2 3 kb DNA band with Pvu Ⅱ digestion was noted, So we diagnosed the patient with EDS type Ⅳ a t molecular level. (J Kor Soc Endocrinol 5 45-49, 1990)