Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen.
In general, osteogenesis imperfecta is caused by heterozygous mutations in either of the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). Usually, these mutations are unique to the affected individual or individuals within a family. In this study, single-strand conformation polymorphism mapping analysis has been coupled with sequence analysis to identify a single base mutation in the alpha 2(I) gene of type I collagen; this mutation is identical in three unrelated individuals with perinatal lethal osteogenesis imperfecta. The heterozygous G to A transition at a CpG dinucleotide results in a Gly502Ser substitution in the alpha 2 chain of type I collagen.
Department of Genetics, University of Leicester, UK.
N J
NJ
Rose
K
K
Mackay
A
A
De Paepe
B
B
Steinmann
H H
HH
Punnett
R
R
Dalgleish
D001483:Base Sequence; D002478:Cells, Cultured; D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D004276:DNA, Satellite / Q000032:analysis; D015226:Dinucleoside Phosphates / Q000235:genetics; D005260:Female; D005347:Fibroblasts; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
D003094:Collagen; D004276:DNA, Satellite; D015226:Dinucleoside Phosphates; C015772:CpG dinucleotide