Genotyping of the three major allelic variants of the human mannose- binding lectin gene by denaturing gradient gel electrophoresis

Human Mutation

Volumn 14, Issue 1, 1999, Pages 80-83

  Gabolde, Martine ^a   Muralitharan, Shanmugakonar ^a   Besmond, Claude ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Denaturing gradient gel electrophoresis (DGGE); Genotyping; Mannose binding lectin; MBL; MBL2

Indexed keywords

LECTIN; MANNOSE;

ALLELE; ARTICLE; CODON; DENATURING GRADIENT GEL ELECTROPHORESIS; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; IMMUNE DEFICIENCY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALLELES; CARRIER PROTEINS; COLLECTINS; ELECTROPHORESIS, AGAR GEL; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; POLYMERASE CHAIN REACTION; VARIATION (GENETICS);

EID: 0033039930     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:1<80::AID-HUMU10>3.0.CO;2-J     Document Type: Article

References (23)

1. Arai T, Tabona P, Summerfield JA. 1993. Human mannose-binding protein gene is regulated by interleukins, dexamethasone and heat shock. Q J Med 86:575-582.
2. Davies EJ, Snowden N, Hillarby MC, Carthy D, Grennan DM, Thomson W, Ollier WE. 1995. Mannose-binding protein gene polymorphism in systemic lupus erythematosus. Arthritis Rheum 38:110-114.
3. Garred P, Thiel S, Madsen HO, Ryder LP, Jensenius JC, Svejgaard A. 1993. Deficiency of mannan-binding protein - a recently discovered complement defect syndrome. Ugeskr Laeger 155:25-29.
4. Jack D, Bidwell J, Turner M, Wood N. 1997. Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin gene. Hum Mutat 9:41-46.
5. Kitz DJ, Stahl PD, Little JR. 1992. The effect of a mannose binding protein on macrophage interactions with Candida albicans. Cell Mol Biol 38:407-412.
6. Lerman LS, Silverstein K. 1987. Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol 155:482-501.
7. Lipscombe RJ, Lau YL, Levinsky RJ, Sumiya M, Summerfield JA, Turner MW. 1992. Identical point mutation leading to low levels of mannose binding protein and poor C3b mediated opsonization in Chinese and Caucasian populations. Immunol Lett 32:253-257.
8. Lipscombe RJ, Sumiya M, Summerfield JA, Turner MW. 1995. Distinct physicochemical characteristics of human mannose binding protein expressed by individuals of differing genotype. Immunology 85:660-667.
9. Lipscombe RJ, Beatty DW, Ganczakowski M, Goddard EA, Jenkins T, Lau YL, Spurdle AB, et al. 1996. Mutations in the human mannose-binding protein gene: frequencies in several population groups. Eur J Hum Genet 4:13-19.
10. Madsen HO, Garred P, Kurtzhals JA, Lamm LU, Ryder LP, Thiel S, Svejgaard A. 1994. A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein. Immunogenetics 40:37-44.
11. Rozen S, Skaletsky HJ. 1996, 1997. Primer3. Code available at http://www-genome.wi.mit.edu/genome_software/other/ primer3.html.
12. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, et al. 1988. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487-491.
13. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular cloning. A laboratory manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
14. Sastry K, Herman GA, Day L, Deignan E, Bruns G, Morton CC, Ezekowitz RA. 1989. The human mannose-binding protein gene. Exon structure reveals its evolutionary relationship to a human pulmonary surfactant gene and localization to chromosome 10. J Exp Med 170:1175-1189.
15. Sumiya M, Super M, Tabona P, Levinsky RJ, Arai T, Turner MW, Summerfield JA. 1991. Molecular basis of opsonic defect in immunodeficient children. Lancet 337:1569-1570.
16. Summerfield JA, Sumiya M, Levin M, Turner MW. 1997. Association of mutations in mannose binding protein gene with childhood infection in consecutive hospital series [see comments]. BMJ 314:1229-1232.
17. Super M, Gillies SD, Foley S, Sastry K, Schweinle JE, Silverman VJ, Ezekowitz RA. 1992. Distinct and overlapping functions of allelic forms of human mannose binding protein. Nature Genet 2:50-55.
18. Tenner AJ, Robinson SL, Ezekowitz RA. 1995. Mannose binding protein (MBP) enhances mononuclear phagocyte function via a receptor that contains the 126,000 M(r) component of the C1q receptor. Immunity 3:485-493.
19. Thomas HC, Foster GR, Sumiya M, McIntosh D, Jack DL, Turner MW, Summerfield JA. 1996. Mutation of gene of mannose-binding protein associated with chronic hepatitis B viral infection [see comments]. Lancet 348:1417-1419.
20. Turner MW. 1994. Mannose binding protein. Biochem Soc Trans 22:88-94.
21. Turner MW. 1996. Mannose-binding lectin: the pluripotent molecule of the innate immune system. Immunol Today 17:532-540.
22. Turner MW, Super M, Singh S, Levinsky RJ. 1991. Molecular basis of a common opsonic defect. Clin Exp Allergy 21: 182-188.
23. Vorup Jensen T, Jensenius JC, Thiel S. 1998. MASP-2, the C3 convertase generating protease of the MBLectin complement activating pathway. Immunobiology 199:348-357.