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Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta.

Abstract：

:Mild osteogenesis imperfecta (OI type I and OI type IV) is characterized by postnatal onset of fractures, absence of skeletal deformity, presenile hearing loss with or without blue sclerae, and dentinogenesis imperfecta. Using one common DNA polymorphism associated with the pro alpha 2(I) human collagen gene, we found genetic heterogeneity in this disorder. In three families, the OI phenotype segregated independently of the DNA polymorphism, whereas in one family, the OI phenotype cosegregated with a DNA polymorphism in a manner suggesting linkage. Use of DNA polymorphisms associated with both type I procollagen genes should provide a tool to unravel the molecular heterogeneity of various heritable disorders of the connective tissue.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Tsipouras P,Børresen AL,Dickson LA,Berg K,Prockop DJ,Ramirez F

subject

Has Abstract

pub_date

1984-11-01 00:00:00

pages

1172-9

issue

6

eissn

0002-9297

issn

1537-6605

journal_volume

36

pub_type

杂志文章

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