Summary
Nonradioactive in situ hybridization with the biotin-labeled chromosome 1-specific probe pUC1.77 was performed on human mitotic and meiotic chromosomes, and on sperm nuclei. The streptavidine-horseradish-peroxidase and diaminobenzidine detection system demonstrated heteromorphisms in the Iq12 heterochromatic region, not only in mitotic cells but also in mature sperm heads. The localization of chromosome 1 could be traced through all meiotic stages and in the sperm nuclei. The frequency of chromosome 1 disomy in human sperm, as indicated by two distinct hybridization signals, was calculated to be 0.41%.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Arnoldus EPJ, Peters ACB, Bots GTAM, Raap AK, Ploeg M van der (1989) Somatic pairing of chromosome 1 centromeres in interphase nuclei of human cerebellum. Hum Genet 83:231–234
Barlow P, Vosa CG (1970) The Y chromosome in human spermatozoa. Nature 226:961–962
Bobrow M, Madan K, Pearson PL (1972) Staining of some specific regions of human chromosomes, particularly the secondary constriction of no. 9. Nature New Biol 238:122–124
Brandriff B, Gordon L, Ashworth L, Watchmaker G, Carrano A, Wyrobek A (1984) Chromosomal abnormalities in human sperm: comparisons among four healthy men. Hum Genet 66:193–201
Brandriff B, Gordon L, Ashworth LK, Watchmaker G, Carrano AV (1986) Detection of chromosomal abnormalities in human sperm. In: Ramel C, Lambert B, Magnusson J (eds) Genetic toxicology of environmental chemicals, part B: Genetic effects and applied mutagenesis. Liss, New York, pp 469–476
Cooke HJ, Hindley J (1979) Cloning of human satellite III DNA: different components are on different chromosomes. Nucleic Acids Res 6:3177–3197
Cremer T, Tesin D, Hopman AHN, Manuelidis L (1988) Rapid interphase and metaphase assessment of specific chromosomal changes in neuroectodermal tumor cells by in situ hybridization with chemically modified DNA probes. Exp Cell Res 176:199–220
Devilee P, Thierry RF, Kievits T, Kolluri R, Hopman AHN, Willard HF, Pearson PL, Cornelisse CJ (1988) Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumors using chromosome-specific repetitive DNA probes. Cancer Res 48:5825–5830
Geraedts J, Pearson P (1973) Specific staining of the human no. 1 chromosome in spermatozoa. Humangenetik 20:171–173
Geraedts JPM, Pearson PL (1975) Spatial distribution of chromosomes 1 and Y in human spermatozoa. J Reprod Fertil 45:515–517
Guttenbach M, Schmid M (1990) Determination of Y chromosome aneuploidy in human sperm nuclei by nonradioactive in situ hybridization. Am J Hum Genet 46:553–558
Joseph AM, Gosden JR, Chandley AC (1984) Estimation of aneuploidy levels in human spermatozoa using chromosome specific probes and in situ hybridization. Hum Genet 66:234–238
Martin RH, Rademaker A (1990) The frequency of aneuploidy among individual chromosomes in 6821 human sperm chromosome complements. Cytogenet Cell Genet 53:103–107
Martin RH, Lin CC, Balkan W, Burns K (1982) Direct chromosomal analysis of human spermatozoa: preliminary results from 18 normal men. Am J Hum Genet 34:459–468
Martin RH, Balkan W, Burns K, Rademaker AW, Lin CC, Rudd NL (1983) The chromosome constitution of 1000 human spermatozoa. Hum Genet 63:305–309
Martin RH, Rademaker AW, Hildebrand K, Long-Simpson L, Peterson D, Yamamoto J (1987) Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet 77:108–114
Nederlof PM, Flier S van der, Raap AK, Tanke HJ, Ploeg M van der, Kornips F, Geraedts JPM (1989) Detection of chromosome aberrations in interphase tumor nuclei by nonradioactive in situ hybridization. Cancer Genet Cytogenet 42:87–98
Pearson PL, Bobrow M, Vosa CG (1970) Technique for identifying Y chromosomes in human interphase nuclei. Nature 226:78–80
Pfeiffer RA (1974) Cell cultures from blood and bone marrow. In: Schwarzacher HG, Wolf U (eds) Methods in human cytogenetics. Springer, Berlin Heidelberg New York, pp 1–37
Pieters MHEC, Geraedts JPM, Meyer H, Dumoulin JCM, Evers LH, Jongbloed RJE, Nederlof PM, Flier S van der (1990) Human gametes and zygotes studied by nonradioactive in situ hybridization. Cytogenet Cell Genet 53:15–19
Watt JL, Templeton AA, Messinis I, Bell L, Cunningham P, Duncan RO (1987) Trisomy 1 in an eight cell human preembryo. J Med Genet 24:60–64
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Guttenbach, M., Schmid, M. Non-isotopic detection of chromosome 1 in human meiosis and demonstration of disomic sperm nuclei. Hum Genet 87, 261–265 (1991). https://doi.org/10.1007/BF00200901
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00200901