Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1988 Jun;42(6):877–883.

Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA.

H Y Zoghbi 1, S P Daiger 1, A McCall 1, W E O'Brien 1, A L Beaudet 1
PMCID: PMC1715200  PMID: 2897163

Abstract

A 1,161-bp EcoRI fragment from the 5' end of the cDNA coding for human factor XIIIa (gene symbol F13A) was used to identify RFLPs in human DNAs. Several different RFLPs were identified with 15 different restriction enzymes. Two RFLPs detected with the restriction enzyme BamHI and one multiallelic RFLP detected with BclI were used for further studies. Linkage relationships between these three polymorphisms and the HLA complex were studied in DNA samples from the 40 Centre d'Etude du Polymorphisme Humain families. Combining all of the data to form highly informative haplotypes, we found linkage to HLA with a maximum lod score of 11.44 at a recombination fraction of .25 for males and .35 for females. These three RFLPs at the FXIIIa locus provide a highly informative marker for the short arm of chromosome 6 with an observed heterozygosity of 91%. Using this marker and the HLA locus, one can confirm or exclude the assignment of gene loci to most of chromosome 6p.

Full text

PDF
877

Images in this article

879Figure 1
on p.879
879Figure 2
on p.879

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Board P. G., Coggan M., Hamer J. W. An electrophoretic and quantitative analysis of coagulation factor XIII in normal and deficient subjects. Br J Haematol. 1980 Aug;45(4):633–640. doi: 10.1111/j.1365-2141.1980.tb07186.x. [DOI] [PubMed] [Google Scholar]
  2. Board P. G. Genetic polymorphism of the A subunit of human coagulation factor XIII. Am J Hum Genet. 1979 Mar;31(2):116–124. [PMC free article] [PubMed] [Google Scholar]
  3. Board P. G., Reid M., Serjeantson S. The gene for coagulation factor XIII a subunit (F13A) is distal to HLA on chromosome 6. Hum Genet. 1984;67(4):406–408. doi: 10.1007/BF00291400. [DOI] [PubMed] [Google Scholar]
  4. Botstein D., White R. L., Skolnick M., Davis R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980 May;32(3):314–331. [PMC free article] [PubMed] [Google Scholar]
  5. Castle S., Board P. G., Anderson R. A. Genetic heterogeneity of factor XIII deficiency: first description of unstable A subunits. Br J Haematol. 1981 Jun;48(2):337–342. [PubMed] [Google Scholar]
  6. Chakravarti A., Phillips J. A., 3rd, Mellits K. H., Buetow K. H., Seeburg P. H. Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. Proc Natl Acad Sci U S A. 1984 Oct;81(19):6085–6089. doi: 10.1073/pnas.81.19.6085. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Conneally P. M., Edwards J. H., Kidd K. K., Lalouel J. M., Morton N. E., Ott J., White R. Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet. 1985;40(1-4):356–359. doi: 10.1159/000132186. [DOI] [PubMed] [Google Scholar]
  8. Eiberg H., Nielsen L. S., Mohr J. Confirmation of F13A assignment and sequence information concerning F13A-HLA-GLO. Clin Genet. 1984 Nov;26(5):385–388. doi: 10.1111/j.1399-0004.1984.tb01077.x. [DOI] [PubMed] [Google Scholar]
  9. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  10. Graham J. B., Edgell C. J., Fleming H., Namboodiri K. K., Keats B. J., Elston R. C. Coagulation factor XIII: a useful polymorphic genetic marker. Hum Genet. 1984;67(2):132–135. doi: 10.1007/BF00272987. [DOI] [PubMed] [Google Scholar]
  11. Grundmann U., Amann E., Zettlmeissl G., Küpper H. A. Characterization of cDNA coding for human factor XIIIa. Proc Natl Acad Sci U S A. 1986 Nov;83(21):8024–8028. doi: 10.1073/pnas.83.21.8024. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Higgs D. R., Wainscoat J. S., Flint J., Hill A. V., Thein S. L., Nicholls R. D., Teal H., Ayyub H., Peto T. E., Falusi A. G. Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus. Proc Natl Acad Sci U S A. 1986 Jul;83(14):5165–5169. doi: 10.1073/pnas.83.14.5165. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Kömpf J., Schunter F., Wernet P., Ritter H. Linkage between the loci for mitochondrial malic enzyme (ME2) and coagulation factor XIIIA subunit (F13A). Hum Genet. 1985;70(1):43–44. doi: 10.1007/BF00389457. [DOI] [PubMed] [Google Scholar]
  14. Marx J. L. Putting the human genome on the map. Science. 1985 Jul 12;229(4709):150–151. doi: 10.1126/science.2990043. [DOI] [PubMed] [Google Scholar]
  15. Morton N. E., Wu D. Alternative bioassays of kinship between loci. Am J Hum Genet. 1988 Jan;42(1):173–177. [PMC free article] [PubMed] [Google Scholar]
  16. Nakamura Y., Leppert M., O'Connell P., Wolff R., Holm T., Culver M., Martin C., Fujimoto E., Hoff M., Kumlin E. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science. 1987 Mar 27;235(4796):1616–1622. doi: 10.1126/science.3029872. [DOI] [PubMed] [Google Scholar]
  17. Nishigaki T., Tokunaga K., Ishii C., Omoto K., Akaza T., Akiyama N., Juji T., Murata S., Naito S., Saji H. No evidence for linkage between the loci for coagulation factor XIII-A and HLA. Hum Genet. 1986 Mar;72(3):266–267. doi: 10.1007/BF00291893. [DOI] [PubMed] [Google Scholar]
  18. Olaisen B., Gedde-Dahl T., Jr, Teisberg P., Thorsby E., Siverts A., Jonassen R., Wilhelmy M. C. A structural locus for coagulation factor XIIIA (F13A) is located distal to the HLA region on chromosome 6p in man. Am J Hum Genet. 1985 Jan;37(1):215–220. [PMC free article] [PubMed] [Google Scholar]
  19. Schwartz M. L., Pizzo S. V., Hill R. L., McKee P. A. Human Factor XIII from plasma and platelets. Molecular weights, subunit structures, proteolytic activation, and cross-linking of fibrinogen and fibrin. J Biol Chem. 1973 Feb 25;248(4):1395–1407. [PubMed] [Google Scholar]
  20. Takahashi N., Takahashi Y., Putnam F. W. Primary structure of blood coagulation factor XIIIa (fibrinoligase, transglutaminase) from human placenta. Proc Natl Acad Sci U S A. 1986 Nov;83(21):8019–8023. doi: 10.1073/pnas.83.21.8019. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES