Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP.
作者： Masahiko Yamamoto , Takeshi Yasuda , Kiyoshi Hayasaka , A. Ohnishi , Hiroo Yoshikawa
关键词: Biology 、 Crossover 、 Genetics 、 Breakpoint 、 Gene mapping 、 Restriction site
摘要: 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. precise locations heterogeneous, we analyzed relative frequency distribution 33 unrelated Japanese CMT1A 3 HNPP families. was divided into five regions, A, B, C, D E, based on restriction site differences between proximal distal repeats. within patients 3% 78% B/C 19% D, which is similar that Caucasian patients. This result also indicates an 8-kb defined by recombinational hotspot
springer.com
sci-hub.se 参考文章(14)
K. Kondo, T. Tsubaki, F. Sakamoto, The ryukyuan muscular atrophy Journal of the Neurological Sciences. ,vol. 11, pp. 359- 382 ,(1970) , 10.1016/0022-510X(70)90082-1
D Pareyson, Massimo Pandolfo, B B Roa, J R Lupski, S di Donato, D Lorenzetti, N E Abbas, A Sghirlanzoni, A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. American Journal of Human Genetics. ,vol. 56, pp. 91- 98 ,(1995)
Liu Pentao, Carol A. Wise, A. Craig Chinault, Pragna I. Patel, James R. Lupski, Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genetics. ,vol. 2, pp. 292- 300 ,(1992) , 10.1038/NG1292-292
Lawrence T. Reiter, Tatsufumi Murakami, Thearith Koeuth, Liu Pentao, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nature Genetics. ,vol. 12, pp. 288- 297 ,(1996) , 10.1038/NG0396-288
Marianne de Visser, Jessica E. Hoogendijk, Bram W. Ongerboer de Visser, Bernhard J. Verbeeten, Calf enlargement in hereditary motor and sensory neuropathy. Muscle & Nerve. ,vol. 13, pp. 40- 46 ,(1990) , 10.1002/MUS.880130109
Phillip F. Chance, Mary Kathryn Alderson, Kathleen A. Leppig, M.William Lensch, Norisada Matsunami, Brooke Smith, Phillip D. Swanson, Shannon J. Odelberg, Christine M. Disteche, Thomas D. Bird, DNA deletion associated with hereditary neuropathy with liability to pressure palsies Cell. ,vol. 72, pp. 143- 151 ,(1993) , 10.1016/0092-8674(93)90058-X
A. Uncini, A. Di Muzio, F. Chiavaroli, D. Gambi, M. Sabatelli, N. Archidiacono, R. Antonacci, R. Marzella, M. Rocchi, Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p11.2 duplication Annals of Neurology. ,vol. 35, pp. 552- 558 ,(1994) , 10.1002/ANA.410350508
Kiyoshi Hayasaka, Masato Himoro, Kenji Nanao, Wataru Sato, Masayuki Miura, Keiichi Uyemura, Eiichi Takahashi, Goro Takada, Isolation and sequence determination of cDNA encoding PMP-22 (PAS-II/SR13/Gas-3) of human peripheral myelin. Biochemical and Biophysical Research Communications. ,vol. 186, pp. 827- 831 ,(1992) , 10.1016/0006-291X(92)90820-B
James R. Lupski, Roberto Montes de Oca-Luna, Susan Slaugenhaupt, Liu Pentao, Vito Guzzetta, Barbara J. Trask, Odila Saucedo-Cardenas, David F. Barker, James M. Killian, Carlos A. Garcia, Aravinda Chakravarti, Pragna I. Patel, DNA duplication associated with Charcot-Marie-Tooth disease type 1A Cell. ,vol. 66, pp. 219- 232 ,(1991) , 10.1016/0092-8674(91)90613-4
Victor V. lonasescu, Rebecca lonasescu, Charles Searby, David F. Barker, Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication Human Molecular Genetics. ,vol. 2, pp. 405- 410 ,(1993) , 10.1093/HMG/2.4.405