title: Charcot-Marie-Tooth disease type 1A duplication by PCR analysis.
abstract: By generating new junctional fragments from the recombinant Charcot-Marie-Tooth (CMT) 1A-REPs in CMT1A patients, a 3.2-kb recombination hot spot is observed in three quarters of CMT1A patients. By a polymerase chain reaction (PCR) method the authors analyzed eight patients CMT1A duplication, confirmed by Southern blot, to detect a recombination hot spot. Four patients had a novel 3.2-kb junctional fragment by PCR analysis. These four patients with a novel 3.2-kb junctional fragment had an abnormal 1789-bp fragment in addition to 1986-bp fragment after NsiI digestion (type 1). One patient who demonstrated no novel 3.2-kb junctional fragment had an abnormal 336-bp fragment in addition to 265 bp (type 2). Three patients with CMT1A duplication were not diagnosed as having CMT1A on the basis of PCR analysis. The PCR-based DNA test is valuable for screening to detect CMT1A duplication.
authors.affiliation: School of Health Sciences, Sapporo 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
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008297:Male; D008875:Middle Aged; D005810:Multigene Family / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic / Q000502:physiology
chemical_list: D009185:Myelin Proteins