Human Genetics

, Volume 69, Issue 4, pp 304–308 | Cite as

Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1)

  • E. Retief
  • M. I. Parker
  • A. E. Retief


For the assignment of the genes for the pro-α2(I) (COLIA2) and the pro-α1(I) (COLIA1) collagens, cDNA and genomic DNA probes were used in in situ hybridization experiments on human prometaphase chromosomes. An improved staining method is reported for the simultaneous identification of chromosomes and the autoradiographic grains after the hybridization procedures. With this procedure more cells with higher resolution could be used for the assignment of genes by in situ hybridization. Statistical analysis of the grains located on respectively 660 and 302 metaphases using pro-α2(I) and proα1(I) DNA probes, confirmed the assignment of these genes to human chromosomes 7 and 17. Analysis of the grain distribution on prometaphase chromosomes showed that the location of the proα2(I) collagen gene is in the region 7q21.3–22.1. The location of the pro-α1(I) collagen gene was found to be in band 17q21.31–2005.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Chandler ME, Yunis JJ (1978) A high resolution in situ hybridization technique for the direct visualization of labelled G-banded early metaphase and prophase chromosomes. Cytogenet Cell Genet 22:352–356Google Scholar
  2. Chu M-L, Myers JC, Bernard MP, Ding J-F, Ramirez F (1982) Cloning and characterization of five overlapping cDNAs specific for the human pro-α1(I) collagen chain. Nucleic Acids Res 10:5925–5934Google Scholar
  3. Church RL, Sundar Raj N, McDougall JK (1980) Regional chromosome mapping of the human skin type I procollagen gene using adenovirus 12-fragmentation of human-mouse somatic cell hybrids. Cytogenet Cell Genet 27:24–30Google Scholar
  4. Dalgleish R, Trapnell BC, Crystal RG, Tolstoshev P (1982) Copy number of a human type I α2 collagen gene. J Biol Chem 257: 13816–13822Google Scholar
  5. Ferguson-Smith MA (1974) Techniques of human chromosome analysis. Ric Clin Lab 4:297Google Scholar
  6. Ferguson-Smith MA, Cox DR (1984) Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16 and 17. Cytogenet Cell Genet 37:127–154Google Scholar
  7. Harper ME, Ullrich A, Saunders GF (1981) Localization of the human insulin gene to the distal end of the short arm of chromosome 11. Proc Natl Acad Sci USA 78:4458–4460Google Scholar
  8. Henderson AS, Myers JC, Ramirez F (1983) Localization of the human 2(I) collagen gene (COLIA2) to chromosome 7q22. Cytogenet Cell Genet 36:586–587Google Scholar
  9. Huerre C, Junien C, Weil D, Chu M-L, Morabito M, Van Cong N, Myers JC, Foubert C, Gross M-S, Prockop DJ, Boué A, Kaplan J-C, de la Chapelle A, Ramirez F (1982) Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci USA 79:6627–6630Google Scholar
  10. Junien C, Huerre C, Rethoré MO (1983) Direct gene dosage determination in patients with unbalanced chromosomal aberrations using cloned DNA sequences application to the regional assignment of the gene for α2(I) procollagen (COLIA2). Am J Hum Genet 35:584–591Google Scholar
  11. Meera Khan P, Smith M (1984) Report of the committee on the genetic constitution of chromosomes 7, 8 and 9. Cytogenet Cell Genet 37:71–102Google Scholar
  12. Myers JC, Chu M-L, Faro SH, Clark WJ, Prockop DJ, Ramirez F (1981) Cloning a cDNA for the pro-α2 chain of human type I collagen. Proc Natl Acad Sci USA 78:3516–3520Google Scholar
  13. O'Farrell P (1981) Replacement synthesis method of labelling DNA fragments. Focus 3:1–3Google Scholar
  14. Solomon E, Hiorns L, Dalgleish R, Tolstoshev P, Crystal R, Sykes B (1983) Regional localization of human α2(I) collagen gene on chromosome 7 by molecular hybridization. Cytogenet Cell Genet 35:64–66Google Scholar
  15. Solomon E, Hiorns L, Sheer D, Rowe D (1984) Conformation that the type I collagen gene on chromosome 17 is COLIA1 (α1(I)), using a human genomic probe. Ann Hum Genet 48:39–42Google Scholar
  16. Sundar Raj CV, Church RL, Klobutcher LA, Ruddle FH (1977) Genetics of the connective tissue proteins: assignement of the gene for human type I procollagen to chromosome 17 by analysis of cell hybrids and microcell hybrids. Proc Natl Acad Sci USA 74:4444–4448Google Scholar
  17. Sykes B, Solomon E (1978) Assignment of a type I collagen structural gene to human chromosome 7. Nature 272:548–549Google Scholar
  18. Yunis JJ, Chandler ME (1977) High-resolution chromosome analysis in clinical medicine. Prog Clin Pathol 7:267–288Google Scholar

Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • E. Retief
    • 1
  • M. I. Parker
    • 2
  • A. E. Retief
    • 1
  1. 1.M. R. C. Research Unit for CytogeneticsUniversity of Stellenbosch Medical SchoolTygerbergRepublic of South Africa
  2. 2.Department Medical BiochemistryUniversity of Cape TownCape TownSouth Africa

Personalised recommendations