Abstract
We identified two informative polymorphisms in the transcribed 3′ untranslated region of the tumor necrosis factor receptor 2 (TNFR2) gene using the poly-merase chain reaction (PCR) with the single-strand conformation polymorphism (SSCP) technique. These poly-morphisms demonstrated Mendelian inheritance and were useful for linkage analysis. TNFR2 was very closely linked to the pronatriodilatin gene (PND), and the TNFR2 SSCP polymorphisms were much more informative than the restriction fragment length polymorphisms currently available for the PND locus. In addition, we have demonstrated that genotyping could be performed with DNA obtained from paraffin-embedded tissue.
Similar content being viewed by others
References
Baker E, Chen LZ, Smith CA, Cullen DF, Goodwin R, Sutherland GR (1991) Chromosomal location of the human tumor necrosis factor receptor genes. Cytogenet Cell Genet 57:117–118
Boothroyd CV, Tek BT, Hayward NK, Hickman PE, Ward GJ, Cameron DP (1991) Single base mutation in the hormone binding domain of the thyroid hormone receptor (beta) gene in generalized thyroid hormone resistance demonstrated by single stranded conformational polymorphism analysis. Biochem Biophys Res Commun 178:606–612
Brockhaus M, Loetscher H (1990) Monoclonal antibodies against cytokine receptors. In: Lefkovits I, Pernis B (eds) Immunological methods, vol 4. Academic Press, New York, p 175
Brockhaus M, Schoenfeld HJ, Schlaeiger HJ, Huniziker W, Lesslauer W, Loetscher H (1990) Identification of two kinds of TNF receptors on human cell lines by monoclonal antibodies. Proc Natl Acad Sci USA 87:3127–3131
Cannon-Albright LA, Goldgar DE, Wright EC, Turco A, Jost M, Meyer LJ, Piepkorn M, Zone JJ, Skolnick MH (1990) Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome 1p36. Am J Hum Genet 46:912–918
Chillon M, Nunes V, Estivall X (1991) SSCP-polymorphism in intron 12 of the CFTR gene recognized by BclI. Nucleic Acids Res 19:6343
Dembic Z, Loetscher H, Gubler U, Pan YCE, Lahm HW, Gentz R, Brockhaus M, Lesslauer W (1990) Two human TNF receptors have similar extracellular, but distinct intracellular domain sequences. Cytokine 2:231–237
Dracopoli NC, Harnett P, Bale SJ, Stanger BZ, Tucker MA, Housman DE, Kefford RF (1989) Loss of alleles from the distal short arm of chromosome 1 occurs late in melanoma tumor progression. Proc Natl Acad Sci USA 88:4614–4618
Dracopoli NC, O'Connell P, Elsner TI, Lalonel JM, White RL, Buetow KH, Nishimura DY, Murray JC, Helms C, Mishra SK, Donis-Keller H, Hall JM, Lee MK, King MC, Attwood J, Morton NE, Robson EB, Mahtani M, Willard HF, Royle NJ, Patel I, Jeffreys AJ, Verga V, Jenkins T, Weber JL, Mitchell AL, Bale AE (1992) A comprehensive genetic linkage map of the human genome. Science 258:67–86
Fong CT, Dracopoli NC, White PS, Merrill PT, Griffith RC, Housman DE, Brodeur GM (1989) Loss of heterozygosity for chromosome 1p in human neuroblastoma: correlation with N-myc amplification. Proc Natl Acad Sci USA 86:3753–3757
Fraser BM, Poon MC, Hoar DI (1992) Identification of factor IX mutations in haemophilia B: application of polymerase chain reaction and single strand conformation analysis. Hum Genet 88:426–430
Frossard PM, Coleman RT (1986) Human atrial natriuretic peptides (ANP) gene locus: Bg1I RFLP. Nucleic Acids Res 14:9223
Frossard PM, Gonzalez PA, Greenberg B, Fiddes JC, Greenberg B, Fiddes JC, Atlas SA (1986) Bg1II dimorphism at the human atrial natriuretic peptide (ANP) gene locus. Nucleic Acids Res 14:5121
Goldstein AM, Dracopoli NC, Ho EC, Fraser MC, Kearns KS, Bale SJ, McBride OW, Clark WH, Tucker MA (1993) Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity. Am J Hum Genet 52:537–550
Gruis NA, Bergman W, Frants RR (1990) Locus for susceptibility to melanoma on chromosome 1p. N Engl J Med 322:853–854
Hensel CH, Xiang RH, Sakaguchi AY, Naylor SL (1991) Use of the single strand conformational polymorphism technique and PCR to detect p53 gene mutations in small cell lung cancer. Oncogene 6:1067–1071
Hurk JAJM van den, Pol TJR van de, Molloy CM, Brunsmam F, Ruther K, Zrenner E, Pinders AJLG, Pawlowitzki IH, Bleeker-Wagemakers EM, Wieringa B, Ropers H-H, Cremers FPM (1992) Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. Am J Hum Genet 50:1195–1202
Iizuka M, Mashiyama S, Oshimura M, Sekiya T, Hayashi K (1992) Cloning and polymerase chain reaction-single strand conformation polymorphism analysis of anonymous Alu repeats on chromosome 11. Genomics 12:139–146
Impraim CC, Saiki RK, Erlich HA, Teplitz RL (1987) Analysis of DNA extracted from formalin-fixed, paraffin-embedded tissues by enzymatic amplification and hybridization with sequence-specific oligonucleotides. Biochem Biophys Res Commun 142:710–716
Jonveaux Ph, Fenaux P, Quiquandon I, Pignon JM, Lai JL, Loucheux-Lefebvre MH, Goossens M, Banters F, Berger R (1991) Mutations in the p53 gene in myelodysplastic syndromes. Oncogene 6:2243–2247
Kaufman BA, White PS, Brodeur GM (1993) A complex single strand conformational polymorphism (SSCP) in the tumor necrosis factor receptor 2 (TNFR2) gene on chromosome 1p36. 2. Hum Mol Genet 2:824
Kemper O, Derre J, Cherif D, Engelmann H, Wallach D, Berger R (1991) The gene for the type II (p75) tumor necrosis factor receptor (TNFRII) is localized on band 1p36.2-p36.3. Hum Genet 87:623–624
Levitt RC (1991) Polymorphisms in the transcribed 3′ untranslated region of eukaryotic genes. Genomics 11:484–489
Litt M, Luty JA (1989) A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet 44:397–401
Loetscher H, Schlaeger EJ, Lahm HW, Pan YCE, Lesslauer W, Brockhaus M (1990) Purification and partial amino acid sequence analysis of two distinct tumor necrosis factor receptors rom HL 60 cells. J Biol Chem 265:20131–20138
Makino H, Ochiai M, Caigrard A, Ishizaka Y, Onda M, Sugimaura T, Nagao M (1992) Detection of a Ha-ras point mutation by polymerase chain reaction-single strand conformation polymorphism analysis in 2-amino-3,4-dimethylimidazo [4,5-f] quinoline-induced mouse forestomach tumors. Cancer Lett 62:115–121
Milatovitch A, Song K, Heller RA, Francke U (1991) Tumor necrosis factor receptor genes, TNFR1 and TNFR2, on human chromosome 12 and 1. Somat Cell Mol Genet 17:519–523
Mills KA, Buetow KH, Xu Y, Ritty TM, Mathews KD, Bodrug SE, Wijmenga C, Balazs I, Murray JC (1992) Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 51:432–39
Moley JF, Brother MB, Fong CT, White PS, Baylin SB, Nelkin B, Wells SA, Brodeur GM (1992) Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type 2 syndromes. Cancer Res 52:770–774
Nemer M, Sirois D, Drouin J (1986a) XhoI polymorphism at the human pronatriodilatin (hPND) gene locus. Nucleic acids Res 14:8696
Nemer M, Sirois D, Drouin J (1986b) TaqI polymorphism at the 3′ end of the human pronatriodilatin gene (hPND). Nucleic Acids Res 14:8697
Olansky L, Janssen R, Welling C, Permutt MA (1992) Variability of the insulin gene in American blacks with NIDDM. Diabetes 41:742–749
Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformational polymorphisms. Proc Natl Acad Sci USA 86:2766–2770
Poduslo SE, Dean M, Kolch U, O'Brien SJ (1991) Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis. Am J Hum Genet 49:106–111
Smith CA, Davis T, Anderson D, Solam L, Beckman MP, Jerzy R, Dower SK, Cosman D, Goodwin RG (1990) A receptor for tumor necrosis factor defines an unusual family of cellular and viral proteins. Science 248:1019–1023
Talmadge JE, Phillips H, Schneider M, Rowe T, Pennington R, Bowersox O, Lenz B (1988) Immunomodulatory properties of recombinant murine and human tumor necrosis factor. Cancer Res 48:544–550
Tracey KJ, Vlassara H, Cerami A (1989) Cachectin/tumor necrosis factor. Lancet I:1122–1126
Triggs-Raine BL, Akerman BR, Clarke JTR, Gravel RA (1991) Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Am J Hum Genet 49:1041–1054
Weber JL, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388–396
Weissenbach J, Gyapay G, Dib C, Vignal A, Morisette J, Millasseau P, Vaysseix G, Lathrop M (1992) A second-generation linkage map of the human genome. Nature 359:794–801
White PS, Kaufman BA, Marshall HN, Brodeur GM (1993) Use of the single strand conformation polymorphism technique to detect loss of heterozygosity in neuroblastoma. Genes Chromosom Cancer 7:102–108
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kaufman, B.A., White, P.S., Steinbrueck, T. et al. Linkage mapping of the tumor necrosis factor receptor 2 (TNFR2) gene to 1p36.2 using the single-strand conformation polymorphism technique. Hum Genet 94, 418–422 (1994). https://doi.org/10.1007/BF00201604
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00201604