Construction of a Detailed Physical and Transcript Map of the FTDP-17 Candidate Region on Chromosome 17q21
| Autor: | Marijke J. van Baren, Sumi Chakraverty, Erwin Wauters, Henry Houlden, Ben A. Oostra, Matt Baker, Mike Hutton, Alison Goate, Volker Nowotny, Jennifer M. Kwon, Susanne Froelich, Patrizia Rizzu, Corinne Lendon, John Hardy, Lars Lannfelt, Peter Heutink, Adrian M. Isaacs, Petra Nowotny |
|---|---|
| Přispěvatelé: | Clinical Genetics, Epidemiology |
| Rok vydání: | 1999 |
| Předmět: |
Genetic Markers
tau Proteins Biology Frontotemporal dementia and parkinsonism linked to chromosome 17 Parkinsonian Disorders Gene mapping Genetics medicine Humans Missense mutation Gene DNA Primers Genes Dominant Sequence (medicine) Expressed Sequence Tags Base Sequence Chromosome Exons Physical Chromosome Mapping medicine.disease Genetic marker Chromosomal region Dementia Microtubule-Associated Proteins Chromosomes Human Pair 17 |
| Zdroj: | Genomics, 60, 129-136. Academic Press |
| ISSN: | 0888-7543 |
| Popis: | Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant condition clinically characterized by behavioral, cognitive, and motor disturbances. Until now, at least 13 different FTDP-17 families that show linkage to chromosome 17q21 have been described. To characterize the FTDP-17 candidate region, flanked by the markers D17S1789 and D17S1804, we constructed a physical map in P1 and PAC clones. A detailed transcript map was generated by positioning known genes and EST clusters to the physical map. In total, we investigated 150 STSs mapped to this region. In addition, novel transcripts were isolated by exon-trapping. We were able to localize 19 known genes and a number of ESTs to this chromosomal region. Furthermore, seven novel genes were identified for which we isolated the full-length sequence. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect