Premium
Osteogenesis imperfecta: Evidence for the existence of an abnormal amino acid sequence in the molecule of dermal collagen
Author(s) -
Heathcote J. G.,
AlAlawi Samirah
Publication year - 1978
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805580
Subject(s) - osteogenesis imperfecta , dermis , amino acid , peptide sequence , type i collagen , osteochondrodysplasia , chemistry , biology , medicine , endocrinology , pathology , biochemistry , gene
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.