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 covering 8 cM of the chromosomal region of 3q28-q29. Focusing on the genetic interval of approximately 1 Mb between markers D3S3669 and D3S3562 we established a sequence-ready PAC contig which covers the OPA1 locus containing the gene causing autosomal dominant optic atrophy (ADOA; OMIM*165500). The fidelity 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 PAC ends by BLAST analysis identified two novel ESTs localising to the OPA1 crucial interval.
Alexander
C
C
Department of Neurology, University Hospital Duesseldorf, Germany. calexand@hgmp.mrc.ac.uk
Bernstein
S L
SL
Rocchi
M
M
Auburger
G
G
D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002893:Chromosomes, Human, Pair 3; D003001:Cloning, Molecular; D020451:Contig Mapping; D020224:Expressed Sequence Tags; D006801:Humans; D015418:Optic Atrophies, Hereditary / Q000235:genetics*