| Literature DB >> 2300239 |
L H Yamaoka1, M A Pericak-Vance, M C Speer, P C Gaskell, J Stajich, C Haynes, W Y Hung, C Laberge, M C Thibault, J Mathieu.
Abstract
The myotonic dystrophy (DM) gene is localized to the proximal long arm of chromosome 19. There have been reports of tight linkage to a number of chromosome 19 markers, including APOC2 and creatine kinase muscle type (CKMM), but they did not establish orientation of the 2 markers to DM. We screened several large multi-generational DM families for linkage to a series of chromosome 19 markers including CKMM. CKMM is tightly linked to DM in these data with z(theta) = 28.41; theta = 0.01. Analysis of cross-over data indicates CKMM is on the same side and closer to DM than APOC2. Thus, CKMM is a useful probe for carrier detection studies in presymptomatic individuals as well as for prenatal diagnosis.Entities:
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Year: 1990 PMID: 2300239 DOI: 10.1212/wnl.40.2.222
Source DB: PubMed Journal: Neurology ISSN: 0028-3878 Impact factor: 9.910