title: Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP.
abstract: The crossover breakpoints for Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are located in the CMT1A-REP repeat flanking a 1.5-Mb region of chromosome 17p11.2-12. The precise locations of the breakpoints are heterogeneous, and we analyzed the relative frequency distribution of breakpoints in 33 unrelated Japanese CMT1A and 3 unrelated HNPP families. The CMT1A-REP repeat region was divided into five regions, A, B, C, D and E, based on restriction site differences between the proximal and distal CMT1A-REP repeats. The frequency distribution of breakpoints within the CMT1A-REP repeat in the Japanese patients was 3% in region A, .78% in B/C and 19% in D, which is similar to that in Caucasian patients. This result also indicates that an 8-kb region defined by region B/C is a recombinational hotspot within the CMT1A-REP repeat in Japanese patients.
authors.affiliation: Department of Neurology, Nagoya University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yamamoto
authors.forename: T
authors.initials: T
authors.lastname: Yasuda
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
authors.forename: A
authors.initials: A
authors.lastname: Ohnishi
authors.forename: H
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: T
authors.initials: T
authors.lastname: Yanagihara
authors.forename: T
authors.initials: T
authors.lastname: Ikegami
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Ohashi
authors.forename: T
authors.initials: T
authors.lastname: Nishimura
authors.forename: T
authors.initials: T
authors.lastname: Mitsuma
authors.forename: H
authors.initials: H
authors.lastname: Kiyosawa
authors.forename: P F
authors.initials: PF
authors.lastname: Chance
authors.forename: G
authors.initials: G
authors.lastname: Sobue
mesh_terms: D044466:Asian People / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D019457:Chromosome Breakage; D003434:Crossing Over, Genetic; D006801:Humans; D007564:Japan; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D044465:White People / Q000235:genetics