Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes

We have fine mapped 29 ESTs of Genemap'99 to YACs and radiation hybrids cov ering 8 cM of the chromosomal region of 3q28-q29. Focusing on the genetic i nterval of similar to1 Mb between markers D3S3669 and D3S3562 we establishe d a sequence-ready PAC contig which covers the OPA1 locus containing the ge ne causing autosomal dominant optic atrophy (ADOA; OMIM*165500). The fideli ty of the contig was increased by the generation of 181 PAC end sequences, 84 of which resulted in PCR-able STSs. Sequence content evaluation of the P AC ends by BLAST analysis identified two novel ESTs localising to the OPA1 crucial interval.