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A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta

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Galicka A., Wolczynski S., Lesniewicz R., Chyczewski L., Gindzienski A.

Acta Biochimica Polonica

2002

tom 49

nr 2

Cultured skin fibroblasts from a proband with a lethal form of osteogenesis imperfecta produce two forms of type I collagen chains, with normal and delayed elec- trophoretic migration; collagen of the proband's mother was normal. Peptide mapping experiments localized the structural defect in the proband to a 1(I) CB8 peptide in which residues 123 to 402 are spaned. Direct sequencing of amplified cDNA covering this region revealed a G to A single base change in one allele of the al(I) chain, that converted glycine 388 to arginine. Restriction enzyme digestion of the RT-PCR product was consistent with a heterozygous COL1A1 mutation. The novel mutation conforms to the linear gradient of clinical severity for the αl(I) chain and results in reduced thermal stability by 3°C and intracellular retention of abnormal molecules.

Ograniczanie wyników

1 Acta Biochimica Polonica

1 Chyczewski L.

1 Galicka A.

1 Gindzienski A.

1 Lesniewicz R.

1 Wolczynski S.

1 2002

Wyniki wyszukiwania

A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta