Pelizaeus-Merzbacher disease: clinical and DNA-linkage study of an extended family
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V P Johnson1, N J Carpenter, K A Kelts
1Department of OB/GYN, University of South Dakota School of Medicine, Vermillion.
American Journal of Medical Genetics
|December 1, 1991
Abstract:
We describe a 5-generation family of 6 individuals with Pelizaeus-Merzbacher disease, Type I. DNA linkage study was done to establish carrier status. Two loci, DXS162 and DXYS1, were informative in this family for carrier determination. The highest lod score is that for PMD-DXYS1 (Z = 1.421 at theta = 0). The carrier probability can only be defined as likely or unlikely in the absence of an established recombination frequency.