Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: Detection by fluorescence in situ hybridization on binucleated lymphocytes

Human Genetics

Volumn 106, Issue 1, 2000, Pages 29-35

  Shi, Qinghua ^a,b,c   Adler, Ilse Dore ^a   Zhang, Jianxuan ^b   Zhang, Xiran ^b   Shan, Xiangnian ^b   Martin, Renee ^c  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b NANJING NORMAL UNIVERSITY   (China)

^c UNIVERSITY OF CALGARY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; ARTICLE; CHROMOSOME 21; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOKINESIS; DNA PROBE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; LYMPHOCYTE; MALE; MOSAICISM; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; TRISOMY 21; YEAST ARTIFICIAL CHROMOSOME;

CASE-CONTROL STUDIES; CELL DIVISION; CELL LINE; CENTROMERE; CHILD; CHILD, PRESCHOOL; CHROMOSOME SEGREGATION; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; LYMPHOCYTES; MALE; MODELS, GENETIC; MOSAICISM; POLYMERASE CHAIN REACTION;

EID: 0034019909     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051005     Document Type: Article

References (38)

1. Borsatto B, Smith M de A, Garcez EM, Peres CA (1998) Age-associated mosaicism and polyploidy in Down's syndrome. Mech Ageing Dev 100:77-83
2. Bossuyt PJ, Van Tienen MN, Gruyter L de, Smets V, Damon J, Wauters JA (1995) Incidence of low-fluorescence satellite region on chromosome 21 escaping detection of aneuploidy at interphase by FISH. Cytogenet Cell Genet 68:203-206
3. Cano J, Caparros MM, Pretel A (1995) Comparative analysis of the rates of chromosome damage induced by bleomycin radiomimetic in human trisomic and diploid lymphocytes: in vitro cultures from a mosaic of a Down's syndrome individual. Cytobios 83:159-166
4. Caria H, Quintas A, Chaveca T, Rueff J (1997) The role of poly(ADP-ribose) polymerase in the induction of sister chromatid exchanges and micronuclei by mitomycin C in Down's syndrome cells as compared to euploid cells. Mutat Res 377:269-277
5. Cherry LM, Johnston DA (1987) Size variation in kinetorechores of human chromosomes. Hum Genet 75:155-158
6. Chumakov I, Rigault P, Guillou S, Ougen P, Billaut A, Guasconi G. Gervy P, LeGall I, Soularue P, Grinas L, et al (1992) Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359:380-387
7. Cimini D, Tanzarella C, Degrassi F (1997) Evaluation of chromosome malsegregation in anaphase and binucleated cells. Proceedings of the AGI-SIMA 1st Joint Meeting. Orvieto, Italy, 23-26 September 1997
8. Devilée P, Cremer T, Slagboom P, Bakker E, Scholl HP, Hager HD, Stevenson AFG, Cornelisse CJ, Pearson PL (1986) Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18 and 21. Cytogenet Cell Genet 41:193-201
9. Eastmond DA, Pinkel D (1990) Detection of aneuploidy and aneuploidy-inducing agents in human lymphocytes using fluorescence in situ hybridization with chromosome-specific DNA probes. Mutat Res 234:303-318
10. Eastmond DA, Rupa DS, Hasegawa LS (1994) Detection of hyperdiploidy and chromosome breakage in interphase human lymphocytes following exposure to the benzene metabolite hydroquinone using multicolor fluorescence in situ hybridization with DNA probes. Mutat Res 322:9-20
11. Eastmond DA, Schuler M, Rupa DS (1995) Advantages and limitations of using fluorescence in situ hybridization for the detection of aneuploidy in interphase human cells. Mutat Res 348: 153-162
12. Elhajouji A, Tibaldi F, Kirsch-Volders M (1997) Indication for threshold of chromosome non-disjunction versus chromosome lagging induced by spindle inhibitors in vitro in human lymphocytes. Mutagenesis 12:133-140
13. Epstein CJ (1989) Down syndrome (trisomy 21). In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill. New York, pp 291-236
14. Falck G, Catalan J, Norppa H (1997) Influence of culture time on the frequency and contents of human lymphocyte micronuclei with and without cytochalasin B. Mutat Res 392:71-79
15. Jalal SM, Law ME (1997) Detection of newborn aneuploidy by interphase fluorescence in situ hybridization. Mayo Clin Proc 72:705-710
16. Jenkins EC, Schupf N, Genovese M, Ye LL, Kapell D, Canto B, Harris M, Devenny D, Lee JH, Brown WT (1997) Increased low-level chromosome 21 mosaicism in older individuals with Down syndrome. Am J Med Genet 68:147-151
17. Marshall RR, Murphy M, Kirkland DJ, Bentley KS (1996) Fluorescence in situ hybridisation with chromosome-specific centromeric probes: a sensitive method to detect aneuploidy. Mutat Res 372:233-245
18. Minissi S, Gustavino B, Degrassi F, Tanzarella C, Rizzoni M (1999) Effect of cytochalasin B on the induction of chromosome missegregation by colchicine at low concentrations in human lymphocytes. Mutagenesis 14:43-49
19. Mohaddes SM, Boyd E, Morris A, Morrison N, Connor JM (1996) A practical strategy for detection of major chromosome aneuploidies using ratio-mixing fluorescence in situ hybridization. Mol Cell Probes 10:147-154
20. Nicklas RB, Kubai DF (1985) Microtubules, chromosome movement, and reorientation after chromosomes are detached from the spindle by micromanipulation. Chromosoma 92:313-324
21. Norppa H, Renzi L, Lindholm C (1993) Detection of whole chromosomes in micronuclei of cytokinesis-blocked human lymphocytes by antikinetochore staining and in situ hybridization. Mutagenesis 8:519-525
22. Percy ME, Markovic VD, Dalton AJ, McLachlan DR, Berg JM, Rusk AC, Somerville MJ, Chodakowski B, Andrews DF (1993) Age-associated chromosome 21 loss in Down syndrome: possible relevance to mosaicism and Alzheimer disease. Am J Med Genet 45:584-588
23. Raimondi E, Scariolo S, De Sario A, De Carli L (1989) Aneuploidy assays on interphase nuclei by means of in situ hybridization with DNA probes. Mutagenesis 4:165-169
24. Satge D, Sommelet D, Geneix A, Nishi M, Malet P, Vekemans M (1998) A tumor profile in Down syndrome. Am J Med Genet 78:207-216
25. Sgura A, Antoccia A, Ramirez MJ, Marcos R, Tanzarella C, Degrassi F (1997) Micronuclei, centromere-positive micronuclei and chromosome nondisjunction in cytokinesis blocked human lymphocytes following mitomycin C or vincristine treatment. Mutat Res 392:97-107
26. Shi Q, Adler ID (1998) Colcemid and econazole do not show aneugenicity in male mouse germ cells. Mutagenesis 13:409-416
27. Smith MT, Zhang L, Wang Y, Hayes RB, Li G, Wiemels J, Dosemeci M, Titenko-Holland N, Xi L, Kolachana P, Yin S, Rothman N (1998) Increased translocations and aneusomy in chromosomes 8 and 21 among workers exposed to benzene. Cancer Res 58:2176-2181
28. Surrallés J, Falck G, Norppa H (1996) In vivo cytogenetic damage revealed by FISH analysis of micronuclei in uncultured human T lymphocytes. Cytogenet Cell Genet 75:151-154
29. Swiger PR, Tucker JD (1996) Fluorescence in situ hybridization: a brief review. Environ Mol Mutagen 27:245-254
30. Vermas RS, Batish SD, Gogineni SK, Kleyman SM, Stetka DG (1997) Centromeric alphoid DNA heteromorphisms of chromosome 21 revealed by FISH-technique. Clin Genet 51:91-93
31. Vogel F, Motulsky AG (1997) Human genetics - problems and approaches, 3rd edn. Springer, Berlin Heidelberg New York
32. Wang Y, Weng Y, Wu C (1994) Studies on centromeric dots (Cd) of trisomy 21 and their parents. Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 11:239-240
33. Wilson MG, Towner JW, Forsman I (1980) Decreasing mosaicism in Down's syndrome. Clin Genet 17:335-340
34. Yurov YB, Laurent AM, Marcais B, Vorsanova SG, Roizes G (1995) Analysis of pericentric chromosome 21 specific YAC clones by FISH: identification of new markers for molecular-cytogenetic application. Hum Genet 95:287-292
35. Zijno A, Marcon F, Leopardi P, Crebelli R (1994) Simultaneous detection of X-chromosome loss and non-disjunction in cytokinesis-blocked human lymphocytes by in situ hybridization with a centromeric DNA probe; implications for the human lymphocyte in vitro micronucleus assay using cytochalasin B. Mutagenesis 9:225-232
36. Zijno A, Marcon M, Leopardi P, Crebelli R (1996a) Analysis of chromosome segregation in cytokinesis-blocked human lymphocytes: non-disjunction is the prevalent damage resulting from low dose exposure to spindle poisons. Mutagenesis 11: 335-340
37. Zijno A, Leopardi P, Marcon M, Crebelli R (1996b) Analysis of chromosome segregation by means of fluorescence in situ hybridization: application of cytokinesis-blocked human lymphocytes. Mutat Res 372:211-219
38. Zijno A, Leopardi P, Marcon M, Crebelli R (1996c) Sex chromosome loss and non-disjunction in women: analysis of chromosomal segregation in binucleated lymphocytes. Chromosoma 104:461-467