Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.
Publication
, Journal Article
Grobler-Rabie, AF; Brebner, DK; Vandenplas, S; Wallis, G; Dalgleish, R; Kaufman, RE; Bester, AJ; Mathew, CG; Boyd, CD
Published in: J Med Genet
June 1985
The human pro alpha 2(I) collagen gene was analysed for the presence of restriction fragment length polymorphisms. DNA from randomly selected unrelated persons of three Southern African populations was cleaved with one of eight different restriction enzymes, electrophoresed, blotted, and hybridised with cDNA and genomic probes specific for the pro alpha 2(I) gene. An MspI polymorphism was detected which results from the loss of a cleavage site within the 3' half of the gene. In two of the populations studied, the polymorphism occurred at significant frequencies, and should therefore prove useful as a genetic marker for the study of inherited disorders of connective tissue involving collagen structure or biosynthesis.
Duke Scholars
Published In
J Med Genet
DOI
ISSN
0022-2593
Publication Date
June 1985
Volume
22
Issue
3
Start / End Page
182 / 186
Location
England
Related Subject Headings
- Polymorphism, Genetic
- Pedigree
- Humans
- Genetics & Heredity
- Genes
- Gene Frequency
- Deoxyribonuclease HpaII
- DNA Restriction Enzymes
- Collagen
- Chromosome Mapping
Citation
APA
Chicago
ICMJE
MLA
NLM
Grobler-Rabie, A. F., Brebner, D. K., Vandenplas, S., Wallis, G., Dalgleish, R., Kaufman, R. E., … Boyd, C. D. (1985). Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene. J Med Genet, 22(3), 182–186. https://doi.org/10.1136/jmg.22.3.182
Grobler-Rabie, A. F., D. K. Brebner, S. Vandenplas, G. Wallis, R. Dalgleish, R. E. Kaufman, A. J. Bester, C. G. Mathew, and C. D. Boyd. “Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.” J Med Genet 22, no. 3 (June 1985): 182–86. https://doi.org/10.1136/jmg.22.3.182.
Grobler-Rabie AF, Brebner DK, Vandenplas S, Wallis G, Dalgleish R, Kaufman RE, et al. Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene. J Med Genet. 1985 Jun;22(3):182–6.
Grobler-Rabie, A. F., et al. “Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.” J Med Genet, vol. 22, no. 3, June 1985, pp. 182–86. Pubmed, doi:10.1136/jmg.22.3.182.
Grobler-Rabie AF, Brebner DK, Vandenplas S, Wallis G, Dalgleish R, Kaufman RE, Bester AJ, Mathew CG, Boyd CD. Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene. J Med Genet. 1985 Jun;22(3):182–186.
Published In
J Med Genet
DOI
ISSN
0022-2593
Publication Date
June 1985
Volume
22
Issue
3
Start / End Page
182 / 186
Location
England
Related Subject Headings
- Polymorphism, Genetic
- Pedigree
- Humans
- Genetics & Heredity
- Genes
- Gene Frequency
- Deoxyribonuclease HpaII
- DNA Restriction Enzymes
- Collagen
- Chromosome Mapping