American Journal of Medical Genetics · 1991 · 10 citations · 17 references
Life SciencesGeneticsMolecular GeneticsGenetic EpidemiologyHuman GeneticsMedical GeneticsGenetic DisordersGenetic LinkageGenetic SyndromesInherited Disease TestingLinkage AnalysisPedigree AnalysisCarrier ScreeningGene Mapping In FamiliesGene Mapping In PedigreesInherited Disorder PedigreesLod Score AnalysisLod Score CalculationPedigree-based MappingPelizaeus-merzbacher Disease
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.
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