A new intronic polymorphism in the C7 gene 36 bp from the common expressed C7 M/N polymorphism

Annals of Human Genetics

Volumn 60, Issue 2, 1996, Pages 179-182

  Fernie, B A ^a   Wurzner R ^a,b   Orren, A ^a,c   Hobart, M ^a  

^a MEDICAL RESEARCH COUNCIL   (United Kingdom)

^b UNIVERSITY OF INNSBRUCK   (Austria)

^c UNIVERSITY HOSPITAL GALWAY   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C7;

ANTIGENIC VARIATION; ARTICLE; CLINICAL ARTICLE; COMPLEMENT DEFICIENCY; CONTROLLED STUDY; DNA POLYMORPHISM; HUMAN; HUMAN CELL; IMMUNOGENETICS; INTRON; POINT MUTATION; PRIORITY JOURNAL;

EID: 0029876008     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-1809.1996.tb01187.x     Document Type: Article

References (14)

1. FERNIE, B. A., HOBART, M. J., DELBRIDGE, G., POTTER, P. C., ORREN, A. & LACHMANN, P. J. (1994). C6 Haplotypes : associations of a DdeI site polymorphism to complement deficiency genes and the Msp I restriction fragment length polymorphism (RFLP). Clin. Exp. Immunol. 95, 351-356.
2. FERNIE, B. A., WÜRZNER, R., UNSWORTH, D. J., TUXWORTH, E. I. & HOBART, M. J. (1995a). DNA Polymorphisms of the Complement C6 and C7 genes. Ann. Hum. Genet. 59, 163-181.
3. FERNIE, B. A., ORREN, A., WÜRZSER, R., JONES, A. M., POTTER, P. C., LACHMANS, P. J. & HOBART, M. J. (1995b). Complement component C6 and C7 haplotypes associated with deficiencies of C6. Ann. Hum. Genet. 59, 183-195.
4. GREEN, M. R. (1991). Biochemical mechanisms of constitutive and regulated pre-mRNA splicing. Annu. Rev. Cell Biol. 7, 559-599.
5. HOBART, M. J., FERNIE, B. A. & DISCIPIO, R. G. (1995). Structure of the human C7 gene and comparison with the C6, C8A, C8B and C9 genes. J. Immunol. 154, 5188-5194.
6. JEFFREYS, A. J. (1979). DNA sequence variants in the Gγ-, Aγ- and δ- and β-globin genes in man. Cell 18, 1-10.
7. NEWTON, C. R., GRAHAM, A., HEPTINSTALL, L. E., POWELL. S. J., SUMMERS, C., KALSHEKER, N., SMITH, J. C. & MARKHAM, A. F. (1989). Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucl. Acids. Res. 17, 2503-2516.
8. OTT, J. (1985). A chi-square test to distinguish allelic association from other causes of phenotypic association between loci. Genet. Epidemiol. 2, 79-84.
9. POTTER, P, C., WARBURTON, C., WÜRZNER, R., ORREN, A. & DISCIPIO, R. (1993). Association of a 12-5-kilobase allele of the MspI restriction fragment length polymorphism of the C6 gene in patients with total deficiency of the sixth component of complement. Exp. Clin. Immunogenet. 10, 38-44.
10. SAIKI, R. K., GELFAND, D.H., STOFFEL, S., SCHARF, S. J., HIGUCHI, R., HORN, G. T., MULLIS, K. B. & ERLICH, H. A. (1988). Primer-directed enzymic amplification of DNA with thermostable DNA polymerase. Science 239, 487-491.
11. WÜRZNER, R., NITZE, R., & GÖTZE, O. (1990). C7*9, a new frequent C7 allele detected by an allotype-specific monoclonal antibody. Complement Inflamm 7, 290-297.
12. WÜRZNER, R., HOBART, M. J., ORREN, A., TOKUNAGA, K., NITZE, R., GÖTZE, O. & LACHMAN, P. J. (1992). A novel protein polymorphism of human complement C7 detected by a monoclonal antibody. Immunogenetics 35, 398-402
13. WÜRZNER, R., FERNIE, B. A., HOBART, M. J., ORREN, A. & LACHMANN, P. J. (1993). The C7 MN polymorphism is determined by a neutral amino acid substitution outside the epitope of the allospecific monoclonal antibody WU 4-15. Mol. Immunol. 30, Suppl. 1, 63.
14. WÜRZNER, R., FERNIE, B. A., JONES, A. M., LACHMANN, P. J. & HOBART, M. J. (1995). Molecular basis of the complement MN polymorphism: a neutral amino acid' substitution outside the epitope of the allospecific monoclonal antibody WU 4-15. J. Immunol. 154, 4813-4819.