Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP.
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.
Yamamoto
M
M
Department of Neurology, Nagoya University School of Medicine, Japan.
Yasuda
T
T
Hayasaka
K
K
Ohnishi
A
A
Yoshikawa
H
H
Yanagihara
T
T
Ikegami
T
T
Yamamoto
T
T
Ohashi
H
H
Nishimura
T
T
Mitsuma
T
T
Kiyosawa
H
H
Chance
P F
PF
Sobue
G
G
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