Abstract:
:We have performed linkage analysis in seven Italian families, in which mild osteogenesis imperfecta (OI) segregated as a dominant trait, by means of six DNA restriction fragment length polymorphisms (RFLPs) of type I collagen genes. OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. OI type IV segregated with COL1A2 in two families. In two OI type I families, the molecular genetic data were insufficient for exclusion of one gene. Four DNA polymorphisms were particularly informative for cosegregation analysis of OI in Italian kindreds.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Mottes M,Cugola L,Cappello N,Pignatti PFdoi
10.1136/jmg.27.6.367subject
Has Abstractpub_date
1990-06-01 00:00:00pages
367-70issue
6eissn
0022-2593issn
1468-6244journal_volume
27pub_type
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