Isolation of human chromosome 21 sequences and their application to in situ hybridization

Summary We report the isolation of 50 independent unique sequences from a human chromosome 21 library (identification code LA21 NSO1). These sequences were individually assigned to chromosome 21 using a mouse-human somatic hybrid cell line, WAVR 4d-F94a. Use of these unique clones as a mixture of probes for in situ hybridization of human metaphase chromosomes demonstrated strong signals on chromosome 21. These unique DNA sequences should provide useful tools for structural and functional analysis of human chromosome 21. The use of these sequences for the detection of Down syndrome is discussed.