Multipoint mapping of the central core disease locus
Journal Article
·
· Genomics; (United States)
- Institut fuer Humangenetik der Universitaet, Wuerzburg (Germany)
- Universita di Torino (Italy)
- Abt. Angewandte Physiologie der Universitaet, Ulm (Germany)
- Universitaetskinderklinik Eppendorf, Hamburg (Germany)
- Universitaetskinderklinik Wien (Austria)
- Univ. Hospital Nijmegen (Netherlands)
- Univ. of Toronto (Canada)
A linkage analysis with 12 DNA markers from proximal 19q was performed in eight families with central core disease (CCO). Two-point analysis gave a peak lod score of Z = 4.95 at [theta] = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at [theta] = 0.00 for the ryanodine receptor (RYR1) candidate gene. Multipoint linkage data place the CCO locus at 19q13.1, flanked proximally by D19S191/D19S28 and distally by D19S47. This map location includes the RYR1 gene. The results of the linkage study present no evidence for genetic heterogeneity of CCO. 19 refs., 2 figs., 1 tab.
- OSTI ID:
- 7035609
- Journal Information:
- Genomics; (United States), Vol. 17:1; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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