Heathcote J G, Al-Alawi S
J Inherit Metab Dis. 1978;1(4):123-8. doi: 10.1007/BF01805580.
A collagen-type pattern of peptide and amino acid spots was obtained when partial hydrolysates of normal human dermis were examined by a specially developed thin-layer chromatographic (TLC) 'finger-printing' technique. The pattern was consistent and independent of age and sex. Two clinically similar cases of osteogenesis imperfecta congenita gave identical patterns which differed in specific regions from those given by their age-matched, normal controls. A single case of osteogenesis imperfecta tarda showed the same overall pattern as the congenita cases. It is concluded that an abnormal amino acid sequence occurs in the collagen molecule of both types of osteogenesis imperfecta.
当采用一种专门开发的薄层色谱（TLC）“指纹图谱”技术检测正常人真皮的部分水解产物时，获得了肽和氨基酸斑点的胶原类型图谱。该图谱是一致的，且与年龄和性别无关。两例先天性成骨不全症临床症状相似的病例给出了相同的图谱，这些图谱在特定区域与其年龄匹配的正常对照所给出的图谱不同。一例晚发性成骨不全症病例显示出与先天性病例相同的整体图谱。得出的结论是，两种类型的成骨不全症的胶原分子中都存在异常的氨基酸序列。
