| | |  | | | | Record from Web of Science® | | | | | | |
| Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q |
|
|
| Author(s): Virtaneva K, Miao JM, Traskelin AL, Stone N, Warrington JA, Weissenbach J, Myers RM, Cox DR, Sistonen P, delaChapelle A, Lehesjoki AE |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 58 Issue: 6 Pages: 1247-1253 Published: JUN 1996 |
| Times Cited: 35 References: 26 |
| Abstract: The EPM1 locus responsible for progressive myoclonus epilepsy of Unverricht-Lundborg type (MIM 254800) maps to a region in distal chromosome 21q where positional cloning has been hampered by the lack of physical and genetic mapping resolution. We here report the use of a recently constituted contig of cosmid, BAC, and P1 clones that allowed new polymorphic markers to be positioned. These were typed in 53 unrelated disease families from an isolated Finnish population in which a putative single ancestral EPM1 mutation has segregated for an estimated 100 generations. By thus exploiting historical recombinations in haplotype analysis, EPM1 could be assigned to the similar to 175-kb interval between the markers D21S2040 and D21S1259. |
| Document Type: Article |
| Language: English |
Addresses:
1. HELSINKI UNIV, DEPT MED GENET, FIN-00014 HELSINKI, FINLAND
2. FINNISH RED CROSS & BLOOD TRANSFUS SERV, HELSINKI, FINLAND
3. STANFORD UNIV, SCH MED, DEPT GENET, STANFORD, CA 94305 USA
4. GENETHON SA, CNRS, URA 1922, EVRY, FRANCE |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: UM271 |
| ISSN: 0002-9297 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |