Detection of Y-specific repeat sequences in normal and variant human chromosomes using in situ hybridization with biotinylated probes.
In situ hybridization with a cloned human Y-specific repeat, pY3.4, derived from the 3.4-kb HaeIII repetitive sequences, is useful in identifying Yq-autosome translocations. In this study nonradioactive procedures were also employed to detect the sites of hybridization. Using a biotinylated probe and either immunofluorescence or horseradish peroxidase reaction, the chromosomes of three probands and members of their families with probable Y-autosome translocations were examined. It was found that not all such translocations can be correctly diagnosed based on conventional banding analysis. The present data indicate the importance of chromosome-specific probes in studying chromosome rearrangements in man.
D001710:Biotin; D002460:Cell Line; D002478:Cells, Cultured; D005347:Fibroblasts / Q000166:cytology; D014644:Genetic Variation; D006801:Humans; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D009693:Nucleic Acid Hybridization; D014176:Protein Biosynthesis; D012016:Reference Values; D012091:Repetitive Sequences, Nucleic Acid; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic; D014998:Y Chromosome
D001710:Biotin