RESUMEN
Autosomal dominant, uncomplicated familial spastic paraplegia (FSP) is a genetically heterogeneous disorder characterized by insidiously progressive lower-extremity spasticity. Recently, a locus on chromosome 14q was shown to be tightly linked with the disorder in one of three families. We performed linkage analysis in a kindred with autosomal dominant uncomplicated FSP. After excluding the chromosome 14q locus, we observed tight linkage of the disorder to a group of markers on chromosome 15q (maximum two-point lod score 9.70; theta = .05). Our results clearly establish the existence of a locus for autosomal dominant FSP in the centromeric region of chromosome 15q. Comparing clinical and genetic features in FSP families linked to chromosome 14q with those linked to chromosome 15q may provide insight into the pathophysiology of this disorder.
Asunto(s)
Cromosomas Humanos Par 15 , Genes Dominantes , Paraplejía Espástica Hereditaria/genética , Adolescente , Adulto , Axones/patología , Centrómero , Niño , Femenino , Genotipo , Humanos , Irlanda/etnología , Escala de Lod , Masculino , Degeneración Nerviosa , Linaje , Paraplejía Espástica Hereditaria/clasificación , Paraplejía Espástica Hereditaria/patología , Estados UnidosRESUMEN
Six proctolin analogues (I-VI) modified in position 1 of the peptide chain by the following amino acids: homo-Arg, Gac, Gav, Gap, Phe (p-guanidino) and Orn, were synthesized by conventional liquid phase method. The myotropic activity of the obtained peptides was investigated in cardioexcitatory test on two insect species, cockroach, Periplaneta americana L., and yellow mealworm, Tenebrio molitor.