title: A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis.
abstract: Most of Charcot-Marie-Tooth (CMT) 1 families are associated with a duplication in chromosome 17p11.2-p12, which includes the gene encoding peripheral myelin protein-22 (PMP-22). Point mutations of the Po gene have been identified in a few of the CMT 1 families in whom no duplication was found. We investigated a new mutation of the Po gene in one of those families. A to G substitution of nucleotide 389 in exon 3 resulted in Lys 131 Arg substitution. This structural change of extracellular domain of Po would alter the function of Po and result in an impairment of peripheral myelin compaction.
authors.affiliation: School of Health Science, Sapparo Medical University, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: N
authors.initials: N
authors.lastname: Kozuka
authors.forename: K
authors.initials: K
authors.lastname: Ohya
authors.forename: S
authors.initials: S
authors.lastname: Chiba
authors.forename: K
authors.initials: K
authors.lastname: Sasaki
authors.forename: K
authors.initials: K
authors.lastname: Uyemura
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D000328:Adult; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002886:Chromosomes, Human, Pair 17; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018993:Myelin P0 Protein / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D018993:Myelin P0 Protein; D009692:Nucleic Acid Heteroduplexes