Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen

Broad boned lethal osteogenesis imperfecta is a severely crippling disease of unknown cause. By means of recombinant DNA technology a 300 base pair deletion in an alpha 1(I)-like collagen gene was detected in six patients and four complete parent-child groups including patients with this disease. On...

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Published inBritish medical journal (Clinical research ed.) Vol. 288; no. 6415; pp. 431 - 434
Main Authors Pope, F M, Cheah, K S, Nicholls, A C, Price, A B, Grosveld, F G
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group LTD 11.02.1984
Subjects
Base Composition
Chromosome Deletion
Collagen - genetics
DNA
Electrophoresis
Female
Humans
Infant
Infant, Newborn
Osteogenesis Imperfecta - congenital
Osteogenesis Imperfecta - diagnostic imaging
Osteogenesis Imperfecta - genetics
Pregnancy
Prenatal Diagnosis
Radiography
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Summary:Broad boned lethal osteogenesis imperfecta is a severely crippling disease of unknown cause. By means of recombinant DNA technology a 300 base pair deletion in an alpha 1(I)-like collagen gene was detected in six patients and four complete parent-child groups including patients with this disease. One from each set of the patients' clinically unaffected parents also carried the deletion, implying that affected patients were genetic compounds. The study suggests that prenatal diagnosis should be possible with 100% accuracy in subjects without the deletion and with 50% accuracy in those who possess it (who would be either heterozygous--normal, or affected with the disease).
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ISSN:0267-0623
DOI:10.1136/bmj.288.6415.431