title: Pelizaeus-Merzbacher disease: clinical and DNA-linkage study of an extended family.
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.
authors.affiliation: Department of OB/GYN, University of South Dakota School of Medicine, Vermillion.
authors.forename: V P
authors.initials: VP
authors.lastname: Johnson
authors.forename: N J
authors.initials: NJ
authors.lastname: Carpenter
authors.forename: K A
authors.initials: KA
authors.lastname: Kelts
mesh_terms: D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007968:Leukoencephalopathy, Progressive Multifocal / Q000235:genetics*; D008126:Lod Score; D008297:Male; D010375:Pedigree; D014960:X Chromosome
chemical_list: D004247:DNA