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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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.

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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.

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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.

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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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