Skip to main content

Advertisement

Log in

Chromosomal aberrations in patients with primary biliary cirrhosis

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Chromosomal aberrations in untreated lymphocyte cultures, bleomycin (BLM)-induced aberrations and sister chromatid exchanges (SCE) in the peripheral blood lymphocytes of 11 patients suffering from primary biliary cirrhosis (PBC) and 14 matched control individuals were analysed. The lymphocytes of the PBC patients had on average a lower mitotic index (2.3) compared with controls (3.5) in the untreated cultures. The mean baseline rate of aberrations of the cultured lymphocytes of the patients was 5.3 aberrations per 100 metaphases (%); this was significantly different (P=0.0291) from that of the controls with a mean of 2.3%. In lymphocytes of the patients and controls, most of the aberrations observed took the form of gaps; there was an almost equal breakage rate in both groups (0.5% and 0.4%, respectively). The average number of mitoses with aberrations in the PBC patients studied was double that of the controls (4.9% and 2.3% respectively, P=0.0323). The mean number of the BLM-induced aberrations was 54.0% and 27.7% for the lymphocytes of the patients and controls, respectively. The mean number of the aberrant mitoses in the BLM cultures was 6 times higher than that of the untreated cultures for both groups, 25.7% and 14.6% respectively (P=0.018). The chromosomal distribution of baseline and induced aberrations was not random. The PBC patients had a mean number of 8.7 SCE per mitosis, which was significantly higher than the SCEs in the controls (6.3 SCE per mitosis; P=0.0156). The evidence suggests that the chromosomes of the lymphocytes of PBC patients may be less stable than those of the control individuals in this study.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Briggs DC, Donaldson PT, Hayes P, Welsh KI, Williams R, Neuberger JM (1987) A major histocompatibility complex class III allotype (C4B2) associated with primary biliary cirrhosis (PBC). Tissue Antigens 29:141–145

    Google Scholar 

  • Craig-Holmes AP, Strong LC, Goodacre A, Pathak S (1987) Variations in the expression of aphidicolin-induced fragile sites in human lymphocyte cultures. Hum Genet 76:134–137

    Google Scholar 

  • Culp KS, Fleming CR, Daffy J, Baldus WP, Dickson ER (1982) Autoimmune associations in primary biliary cirrhosis. Mayo Clin Proc 57:365–370

    Google Scholar 

  • Eichler O, Farah A, Herken H, Welsh AD (eds) (1975) Handbook of experimental pharmacology, vol 38, part 2. Springer, Berlin Heidelberg New York

    Google Scholar 

  • Emerit I, Housset E, Feingold J (1976) Chromosomal breakage and scleroderma: studies in family members. J Lab Clin Med 88:81–86

    Google Scholar 

  • Fielder AHL, Walport MJ, Batchelor JR, Rynes RI, Black CM, Dodi IA, Hughes GRV (1983) Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility. Br Med J 286:425–428

    Google Scholar 

  • Goudie SM, Burt AD, Boyle P, MacFarlane G, Birnie GG, Mille PR, Gillis CR, MacSween RNM, Watkins G (1985) Breast cancer in women with primary biliary cirrhosis. Br Med J 291:1597–1598

    Google Scholar 

  • Hirsch B, McGue M, Cewenka J (1984) Characterization of the distribution of sister chromatid exchange frequencies: implications for research design. Hum Genet 65:280–286

    Google Scholar 

  • Hughes P, Holt S, Rowell NR, Allonky ID, Dodd JK (1977) The relationship of defective cell-mediated immunity to visceral disease in systemic sclerosis. Clin Exp Immunol 28:233–240

    Google Scholar 

  • ISCN (1985) An international system for human cytogenetics nomenclature. Harnden DG, Klinger HP (eds) Published in collaboration with Cytogenet Cell Genet. Karger, Basel

    Google Scholar 

  • Latt SA, Screck RR (1980) Sister chromatid exchange analysis. Am J Hum Genet 32:297–313

    Google Scholar 

  • Manns M, Gerken G, Kyriatsoulis A, Trautwein C, Reske K, Meyer zum Büschenfelde KH (1987) Two different subtypes of antimitochondrial antibodies are associated with primary biliary cirrhosis: identification and characterization by radioimmunoblotting and immunoblotting. Hepatology 7:893–899

    Google Scholar 

  • Mills PR, Boyle P, Quigley EMM, Birnie GG, Jarrett F, Watkins G, MacSween RNM (1982) PBC: an increased incidence of extrahepatic malignancies. J Clin Pathol 35:541–543

    Google Scholar 

  • Murty VVVS, Mitra AB, Luthra UK, Singh IP (1986) Sister chromatid exchanges in patients with pre-cancerous and cancerous lesions of cervix uteri. Hum Genet 72:37–42

    Google Scholar 

  • Rittner C, Meier EMM, Stradmann B, Giles CM, Köchling R, Mollenhauer E, Kreth HW (1984) Partial C4 deficiency in subacute sclerosing panencephalitis. Immunogenetics 20:407–415

    Google Scholar 

  • Rittner G, Schwanitz G, Baur MP, Black CM, Welsh KI, Kühnl P, Rittner C (1988) Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes. Hum Genet 81:64–70

    Google Scholar 

  • Sasaki MS, Tonamura A (1973) A high susceptibility of Fanconi's anemia to chromosome breakage by DNA crosslinking agents. Cancer Res 33:1829–1836

    Google Scholar 

  • Sherlock S (1985) Diseases of the liver and biliary system, 7th edn. Blackwell, Oxford, pp 232–244

    Google Scholar 

  • Sutherland GR, Hecht F (1985) Fragile sites on human chromosomes. (Oxford monographs on medical genetics) Oxford University Press, New York Oxford

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Notghi, A., Nestle, U., Rittner, G. et al. Chromosomal aberrations in patients with primary biliary cirrhosis. Hum Genet 85, 546–550 (1990). https://doi.org/10.1007/BF00194235

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00194235

Keywords

Navigation