Abstract
Four loci dispersed on different chromosomes are coding for the pro α chains of the 3 types of fibrillar collagen in human. Structural mutations of these genes have been demonstrated in osteogenesis imperfecta (OI), Ehlers-Danlos S. types IV and VII (EDS), Marfan S. and certain chondrodystrophies. DNA markers (RFLP) have been identified and used for genetic linkage studies in some of these disorders. In the proα2(I) gene, 3 RFLP's generated by the EcoRI, MspI and StuI restriction endonucleases (RE) have been utilized for linkage studies in 15 families with an autosomal dominant form of OI. With the use of the molecular haplotypes we established linkage in 3 families, ruled out linkage in 5 while the remaining 7 were not informative. The 3 families with the specific proα2(I) collagen gene association belong to a distinct phenotypic group (OI type IV). Biochemical studies revealed that the defect in an affected individual is a small deletion in the middle of the proα2(I) chain. Similarly, 2 high frequency DNA polymorphisms, generated by the Hind III and EcoRI RE, associated with the proα1(II) gene and 4 RFLP's generated by the Hind III, EcoRI, MspI and XhoI RE, and associated with the proα1(III) gene have been identified. Preliminary data on linkage studies utilizing the proα1(III) RFLP's emphasized the informative power of these markers in defining the molecular heterogeneity of EDS IV.
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Tsipouras, P., Chu, ML., Sangiorgi, F. et al. 866 DNA MARKERS ASSOCIATED WITH HUMAN PROCOLLAGEN GENES. Pediatr Res 19, 255 (1985). https://doi.org/10.1203/00006450-198504000-00896
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DOI: https://doi.org/10.1203/00006450-198504000-00896