Summary
The pro α 2(I) collagen gene has been screened for Bgl II restriction fragment length polymorphisms (RFLPs) in the Finnish population which has a long background of genetic isolation. As genetically isolated populations tend to demonstrate deviations in the degree of heterozygosity, the RFLP markers described in more heterogeneous populations can not be utilized as such in the former. This proved to be the case with Bgl II polymorphism within the pro α 2(I) collagen gene, the gene involved in different disorders of connective tissue. This report describes the presence of three new RFLP-loci and the absence of one RFLP-locus, which had been earlier reported from a population with a genetic background remote from the population studied here.
This is a preview of subscription content, log in via an institution to check access.
References
Brebner DK, Grobler-Rabie AF, Bester AJ, Mathew CG, Boyd CD (1985) Two new polymorphic markers in the human pro α 2(I) collagen gene. Hum Genet 70:25–27
Grobler-Rabie AF, Brebner DK, Vandenplas S, Wallis G, Dalgleish R, Kaufman RE, Bester AJ, Mathew CGP, Boyd CD (1985a) Polymorphism of DNA sequence in the human pro α 2(I) collagen gene. J Med Genet 22:182–186
Grobler-Rabie AF, Wallis G, Brebner DK, Beighton P, Bester AJ, Mathew CG (1985b) Detection of high frequency Rsa I polymorphism in the human pro α 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBO J 4:1745–1748
Myers JC, Chu M-L, Faro SH, Clark WJ, Prockop DJ, Ramirez F (1981) Cloning a cDNA for the pro α 2 chain of human type I collagen. Proc Natl Acad Sci USA 78:3516–3520
Sykes B, Wordsworth P, Ogilvie D, Anderson J, Jones N (1986) Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet II:69–72
Tsipouras P, Myers JC, Ramirez F, Prockop DJ (1983) Restriction fragment length polymorphism associated with the pro α 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest 72:1262–1267
Tsipouras P, Borresen A-L, Dickson LA, Berg K, Prockop DJ, Ramirez F (1984) Molecular heterogeneity in the mild autosomal forms of osteogenesis imperfecta. Am J Hum Genet 36:1172–1179
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ahti, H., Palotie, A., Peltonen, L. et al. DNA-polymorphism of type I collagen gene detected with Bgl II in the genetically isolated finnish population. Hum Genet 75, 79–80 (1987). https://doi.org/10.1007/BF00273846
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00273846