An estimate of the number of genes in the Huntington disease gene region and the identification of 13 transcripts in the 4p16.3 segment.

Physical mapping and genetic linkage studies have positioned the Huntington disease (HD) gene to a relatively large genomic region in the distal portion of the short arm of human chromosome 4 (4p16.3). To estimate the number of genes present in this region and to identify candidate disease genes, several clones that map to the 4p16.3 segment have been examined for clusters of CpG-rich restriction sites and transcribed sequences. Thirteen expressed sequences were identified and were shown by pulsed-field gel electrophoresis not to cluster into a small segment of the 4p16.3 band. The frequency of transcripts in these clones suggests that the putative HD gene region contains about 100 genes.