Premium
General Strategies for Isolating the Genes Encoding Type I Collagen and for Characterizing Mutations Which Produce Osteogenesis Imperfecta a
Author(s) -
COHN DANIEL H.,
WENSTRUP RICHARD J.,
WILLING MARCIA C.,
BONADIO JEFFREY F.,
BYERS PETER H.
Publication year - 1988
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1988.tb55325.x
Subject(s) - osteogenesis imperfecta , annals , medicine , library science , gerontology , history , classics , pathology , computer science
To understand the nature of structural defects that produce osteogenesis irnperfecta (01), the modes of inheritance of the several forms of the disease, and the effects of specific mutations on the behavior of the type I collagen molecule, we have developed a general strategy for analyzing the basic molecular defects which produce the phenotype. The genes encoding the two chains of the type I collagen molecule are structurally complex,'.* and the proteins are large and internally repetitive?' making analysis of mutations at either the DNA or protein level difficult. The al( I ) and a2( I) chains which make up the type I collagen heterotrimer are encoded by the 18 kilobase (kb)