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PMID: 9556660 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Analysis of three restriction fragment length polymorphisms in the human type II procollagen gene.

American journal of human genetics ·Vol. 37 ·No. 4 ·1985-07-00 ·Pages 719-32

Eng CE, Strom CM

Abstract

Cloned genomic DNA sequences corresponding to various regions of the human type II procollagen gene were used to analyze the DNA from 78 normal volunteers. Southern hybridization experiments detected polymorphic HindIII, BamHI, and EcoRI sites. The presence of the polymorphic HindIII site results in a 7.0-kilobase (kb) band, and the absence of this site results in a 14.0-kb band. When present, the BamH1 polymorphic site yields a 4.8-kb band, and when absent, yields a 7.2-kb band. The presence of the EcoRI polymorphic site results in a 3.7-kb band, and its absence results in a 7.0-kb band. Each polymorphic site was mapped. Analyses of the data demonstrated that the sites are present in overall gene frequencies of .39 for HindIII, .04 for BamHI, and .02 for EcoRI. Gene frequencies of the polymorphic sites were also studied with respect to race. The polymorphic sites are present in a Hardy-Weinberg distribution in the study population. Study of an extended family demonstrated that the segregation of the HindIII polymorphic site is consistent with Mendelian inheritance.

MeSH Terms
Deoxyribonuclease BamHI/metabolism Deoxyribonuclease EcoRI/metabolism Deoxyribonuclease HindIII/metabolism Gene Frequency Humans Polymorphism, Restriction Fragment Length Procollagen/genetics Restriction Mapping Whites
Chemicals
Procollagen Deoxyribonuclease BamHI Deoxyribonuclease EcoRI Deoxyribonuclease HindIII
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Eng C E
Department of Pediatrics, Joseph P. Kennedy, Jr. Mental Retardation Research Center, Chicago, IL, USA.
Strom C M
References (21)
21 references, click to expand
  1. Maternal inheritance of mammalian mitochondrial DNA.
    Nature. 1974 Oct 11;251(5475):536-8 PMID: 4423884
  2. Isolation and characterization of genomic clones corresponding to the human type II procollagen gene.
    Nucleic Acids Res. 1984 Jan 25;12(2):1025-38 PMID: 6320112
  3. The primary structure of collagen.
    Int Rev Connect Tissue Res. 1976;7:1-60 PMID: 177376
  4. pBR322 restriction map derived from the DNA sequence: accurate DNA size markers up to 4361 nucleotide pairs long.
    Nucleic Acids Res. 1978 Aug;5(8):2721-8 PMID: 358147
  5. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.
    Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631-5 PMID: 281713
  6. Prenatal diagnosis of classical phenylketonuria by gene mapping.
    JAMA. 1984 Apr 20;251(15):1998-2002 PMID: 6700105
  7. Structure and sequence of the chicken type II procollagen gene. Characterization of the region encoding the carboxyl-terminal telopeptide and propeptide.
    J Biol Chem. 1984 Jun 25;259(12):7826-34 PMID: 6330084
  8. Localization of human type II procollagen gene (COL2A1) to chromosome 12.
    Somat Cell Mol Genet. 1984 Nov;10(6):651-5 PMID: 6594770
  9. Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
    Am J Hum Genet. 1980 May;32(3):314-31 PMID: 6247908
  10. Structurally distinct collagen types.
    Annu Rev Biochem. 1980;49:957-1003 PMID: 6157354
  11. Immunological studies on collagen type transition in chondrogenesis.
    Curr Top Dev Biol. 1980;14(Pt 2):199-225 PMID: 6161753
  12. Studies on the selectivity of DNA precipitation by spermine.
    Nucleic Acids Res. 1981 Oct 24;9(20):5493-504 PMID: 7029471
  13. Molecular basis for familial isolated growth hormone deficiency.
    Proc Natl Acad Sci U S A. 1981 Oct;78(10):6372-5 PMID: 6273867
  14. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
    Nature. 1982 Apr 15;296(5858):627-31 PMID: 6280057
  15. Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.
    Nucleic Acids Res. 1982 Mar 11;10(5):1557-78 PMID: 6461845
  16. A sensitive new prenatal test for sickle-cell anemia.
    N Engl J Med. 1982 Jul 1;307(1):30-2 PMID: 6176866
  17. Isolation and characterization of a human collagen alpha 1(I)-like gene from a cosmid library.
    Nucleic Acids Res. 1982 Mar 25;10(6):1981-94 PMID: 6281728
  18. Molecular heterogeneity of inherited antithrombin III deficiency.
    N Engl J Med. 1983 Jun 30;308(26):1549-52 PMID: 6304514
  19. Segregation and mapping analysis of polymorphic HLA class I restriction fragments: detection of a novel fragment.
    Science. 1983 Oct 7;222(4619):72-4 PMID: 6312559
  20. Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.
    J Clin Invest. 1983 Oct;72(4):1262-7 PMID: 6313757
  21. Detection of specific sequences among DNA fragments separated by gel electrophoresis.
    J Mol Biol. 1975 Nov 5;98(3):503-17 PMID: 1195397
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1985-07-00
Pages
719-32
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684608
Subset
IM
Grants
NIADDK NIH HHS · AM-33910 · United States
NICHD NIH HHS · HD-04583 · United States
External Links
PubMed source PMC Full Text View journal details
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