Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes
| Autor: | Georg Auburger, Mariano Rocchi, Steven L. Bernstein, Christiane Alexander |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Disease gene
Genetics Expressed Sequence Tags Expressed sequence tag Contig Autosomal Dominant Optic Atrophy food and beverages Chromosome Mapping Locus (genetics) Biology eye diseases Contig Mapping Optic Atrophies Hereditary Chromosomal region Humans Chromosomes Human Pair 3 Cloning Molecular Gene Chromosomes Artificial Yeast Genetics (clinical) |
| Zdroj: | European journal of human genetics : EJHG. 9(4) |
| ISSN: | 1018-4813 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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