UNUSUAL PATTERN OF BONE MARROW SOMATIC
MUTATION IN PEDIATRIC PATIENTS REFERRED
FOR CYTOGENETIC ANALYSIS
Grant SG1,*, McLoughlin RK2, Wenger SL3 *Corresponding Author: Stephen G. Grant, Ph.D., Department of Environmental and Occupational Health, University of Pittsburgh, 3343 Forbes Avenue, Pittsburgh, PA 15260, USA; Tel.: +412-383-2093; Fax: +412-383-2123; E-mail: sgg@pitt.edu page: 45
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REFERENCES
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10. Bigbee WL, Langlois RG, Swift M, Jensen RH. Evidence for an elevated frequency of in vivo somatic cell mutations in ataxia telangiectasia. Am J Hum Genet 1989; 44(3): 402-408.
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12. Sala-Trepat M, Boyse J, Richard P, Papadopoulo D, Moustacchi E. Frequencies of HPRT–- lymphocytes and glycophorin A variants erythrocytes in Fanconi anemia patients, their parents and control donors. Mutat Res 1993; 289(1): 115-126.
13. Langlois RG, Bigbee WL, Jensen RH, German, J. Evidence for elevated in vivo mutations and somatic recombination in Bloom’s syndrome. Proc Natl Acad Sci USA 1989; 86(2): 670-674.
14. Kyoizumi S, Nakamura N, Takeb H, Tatsumi K, German J, Akiyama M. Frequency of variant erythrocytes at the glycophorin-A locus in two Bloom’s syndrome patients. Mutat Res 1989; 214(2): 215-222.
15. Kyoizumi S, Kusunoki Y, Seyama T, Hatamochi A, Goto M. In vivo somatic mutations in Werner’s syndrome. Hum Genet 1998; 103(4): 405-410.
16. Moser MJ, Oshima J, Bigbee WL, Grant SG, Langlois RG, Jensen RH, Monnat RJ Jr. Genetic instability and hematologic disease risk in Werner syndrome patients and heterozygotes. Cancer Res 2000; 60(9): 2492-2496.
17. Grant SG, Reeger W, Wenger SL. Diagnosis of ataxia telangiectasia with the glycophorin A somatic mutation assay. Genet Test 1997/1998; 1(4): 261-267.
18. Evdokimova VE, McLoughlin RK, Wenger SL, Grant SG. Use of the glycophorin A bone marrow somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of GPA genotype. Am J Med Genet A 2005; 135(1): 59-65.
19. Grant SG, Wenger SL, Latimer JJ, Thull D, Burke LW. Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome. Clin Genet 2000; 58(3): 209-215.
20. Grant SG, Wenger SL. In vivo hypermutability associated with a de novo interstitial deletion adjacent to the glycophorin A gene on chromosome 4. Am J Hum Genet 2000; 67(Suppl 2): 76.
21. Jensen RH, Bigbee WL, Langlois RG. In vivo somatic mutations in the glycophorin A locus of human erythroid cells. Banbury Rep 1987; 28: 149-159.
22. Compton-Quintana PJE, Jensen RH, Bigbee WL, Grant SG, Langlois RG, Smith MT, Rappaport SM. Use of the glycophorin A human mutation assay to study workers exposed to styrene. Environ Health Perspect 1993; 99: 297-301.
23. Akiyama M, Kyoizumi S, Hirai Y, Kusonoki Y, Iwamoto KS, Nakamura N. Mutation frequency in human blood cells increases with age. Mutat Res 1995; 338(1-6): 141-149.
24. Bigbee WL, Fuscoe JC, Grant SG, Jones IM, Gorvad AE, Harrington-Brock K, Strout CL, Thomas CB, Moore MM. Human in vivo somatic mutation measured at two loci: individuals with stably elevated background erythrocyte glycophorin A (gpa) variant frequencies exhibit normal T-lymphocyte hprt mutant frequencies. Mutat Res 1998; 397(2): 119-136.
25. Rothman N, Haas R, Hayes RB, Li G-L, Wiemels J, Campleman S, Quintana PJE, Xi L-J, Dosemeci N, Titenko-Holland N, Meyer KB, Lu W, Zhang LP, Bechtold W, Wang Y-Z, Kolachana P, Yin S-N, Blot W, Smith MT. Benzene induces gene-duplicating but not gene-inactivating mutations at the glycophorin A locus in exposed humans. Proc Natl Acad Sci USA 1995; 92(9): 4069-4073.
26. Grant SG. Molecular epidemiology of human cancer: biomarkers of genotoxic exposure and susceptibility. J Environ Pathol Toxicol Oncol 2001; 20(4): 245-261.
27. Langlois RG, Akiyama M, Kusonoki Y, DuPont BR, Moore DH II, Bigbee WL, Grant SG, Jensen RH. Analysis of somatic cell mutations at the glycophorin A locus in atomic bomb survivors: a comparative study of assay methods. Radiat Res 1993; 136(1): 111-117.
28. Grant SG, Bigbee WL. Bone marrow somatic mutation after genotoxic cancer therapy. Lancet 1994; 343(8911): 1507-1508 [erratum Lancet 1994; 344(8919): 415.
29. Jensen RH, Langlois RG, Bigbee WL, Grant SG, Moore D, II, Pilinskaya M, Vorobtsova I, Pleshanov P. Elevated frequency of glycophorin A mutations in erythrocytes from Chernobyl accident victims. Radiat Res 1995; 141(2): 129-135.
30. Jensen RH, Reynolds JC, Robbins J, Bigbee WL, Grant SG, Langlois RG, Pineda JD, Lee T, Barker WC. Glycophorin A as a biological dosimeter for radiation dose to the bone marrow from iodine-131. Radiat Res 1997; 147(6): 747-752.
31. Bigbee WL, Wyrobek AW, Langlois RG, Jensen RH, Everson RB. The effect of chemotherapy on the in vivo frequency of glycophorin A ‘null’ variant erythrocytes. Mutat Res 1990; 240(3): 165-175.
32. Bigbee WL, Grant SG, Langlois RG., Jensen RH, Anttila A, Pfaffli P, Pekari K, Norppa H. Glycophorin A somatic cell mutation frequencies in Finnish reinforced plastics workers exposed to styrene. Cancer Epidemiol Biomarkers Prev 1996; 5(10): 801-810.
33. Neri M, Geido E, Filiberti R, Orecchia R, Di Vinci A, Cafferata M, Tassara E, Puntoni R, Giaretti W. Analysis of erythrocyte glycophorin-A variants by flow cytometry in lung disease patients detects the effect of tobacco smoke. Anal Cell Pathol 2000; 21(1): 35-40.
34. Grant SG, Jensen RH. Use of hematopoietic cells and markers for the detection and quantitation of human in vivo somatic mutation. In: Garratty G, ed. Immunobiology of Transfusion Medicine. New York: Marcel Dekker, Inc., 1993; 299-323.
35. McGinniss MJ, Falta MT, Sullivan LM, Albertini RJ. In vivo hprt mutant frequencies in T-cells of normal human newborns. Mutat Res 1990; 240(2): 117-126.
36. Finette BA, Sullivan LM, O'Neill JP, Nicklas JA, Vacek PM, Albertini RJ. Determination of hprt mutant frequencies in T-lymphocytes from a healthy pediatric population: statistical comparison between newborn, children and adult mutant frequencies, cloning efficiency and age. Mutat Res 1994; 308(2): 223-231.
37. Liu M, Grant SG, Macina OT, Klopman G, Rosenkranz HS. Structural and mechanistic bases for the induction of mitotic chromosomal loss and duplication (“malsegregation”) in the yeast Saccharomyces cerevisiae: relevance to human carcinogenesis and developmental toxicology. Mutat Res 1997; 374(2): 209-231.
38. Finette BA, Poseno T, Vacek PM, Albertini RJ. The effects of maternal cigarette smoke exposure on somatic mutant frequencies at the HPRT locus in healthy newborns. Mutat Res 1997; 377(1): 115-123.
39. Finette BA, O’Neill JP, Vacek PM, Albertini RJ. Gene mutations with characteristic deletions in cord blood T lymphocytes associated with passive maternal exposure to tobacco smoke. Nature Med 1998; 4(10): 1144-1151.
40. Steingrimsdottir H, Rowley G, Waugh A, Beare D, Ceccherini I, Cole J, Lehmann AR. Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors. Mutat Res 1993; 294(1): 29-41.
41. Laquerbe A, Sala-Trepat M, Vivies C, Escarcellar M, Papadopoulo D. Molecular spectra of HPRT deletion mutations in circulating T-lymphocytes in Fanconi anemia patients. Mutat Res 1999; 431(2): 341-350.
42. Diaz M, Watson NB, Turkington G, Verkoczy LK, Klinman NR, McGregor WG. Decreased frequency and highly aberrant spectrum of ultraviolet-induced mutations in the hprt gene of mouse fibroblasts expressing antisense RNA to DNA polymerase z. Mol Cancer Res 2003; 1(11): 836-847.
43. Grant SG. Similar effects of active and passive maternal tobacco smoke exposure on in utero mutagenesis. BMC Ped 2005; (in press).
44. Ammenheuser MM, Berenson AB, Stiglich NJ, Whorton EB Jr, Ward JB Jr. Elevated frequencies of hprt mutant lymphocytes in cigarette-smoking mothers and their newborns. Mutat Res 1994; 304(2): 285-294.
45. Manchester DK, Nicklas JA, O’Neill JP, Lippert MJ, Grant SG, Langlois RG, Moore DH 3rd, Jensen RH, Albertini RJ, Bigbee WL. Sensitivity of somatic mutations in human umbilical cord blood to maternal environments. Environ Mol Mutagen 1995; 26(3): 203-212.
46. Elmore E, Swift M. Growth of cultured cells from patients with Fanconi anemia. J Cell Physiol 1975; 87(2): 229-233.
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