Non-isotopic detection of chromosome 1 in human meiosis and demonstration of disomic sperm nuclei.

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 1q12 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%.