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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
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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