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Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP

✍ Scribed by Masahiko Yamamoto; Takeshi Yasuda; Kiyoshi Hayasaka; A. Ohnishi; Hiroo Yoshikawa; Takehiko Yanagihara; Tohru Ikegami; Tatsunori Yamamoto; Hirofumi Ohashi; Tomoya Nishimura; Terunori Mitsuma; Hidenori Kiyosawa; Phillip F. Chance; G. Sobue


Publisher
Springer
Year
1997
Tongue
English
Weight
72 KB
Volume
99
Category
Article
ISSN
0340-6717

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The CMT1A-REP repeat is proposed to mediate unequal crossover leading to a 1.5 Mb duplication in chromosome 17p11.2-12 associated with Charcot-Marie-Tooth neuropathy type 1A (CMT1A). There is an apparent recombinational "hotspot" in the CMT1A-REP repeat since the majority of crossover breakpoints fo

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Charcot-Marie-Tooth disease type 1A (CMT1A) is a common autosomal dominant demyelinating peripheral neuropathy. Most patients with CMT1A have been found to have a 1.5 megabase tandem DNA duplication in chromosome 17p11.2-12. Meiotic unequal crossover mediated by the CMT1A-REP repeat is a proposed me

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## Abstract We have constructed a 1.4‐Mb P1 artificial chromosome/bacterial artificial chromosome (PAC/BAC) contig spanning the 17q breakpoint of a constitutional translocation t(1;17)(p36.2;q11.2) in a patient with neuroblastoma. Three 17q breakpoint‐overlapping cosmids were identified and sequenc