Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment

被引:2
作者
Combarros, O [1 ]
Oterino, A
Berciano, J
Benito, A
Fernández-Luna, JL
机构
[1] Univ Santander, Hosp Marques Valdecilla, Serv Neurol, Santander 39008, Spain
[2] Univ Santander, Hosp Marques Valdecilla, Serv Immunol, Santander 39008, Spain
关键词
D O I
10.1136/jmg.35.11.962
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:962 / 963
页数:2
相关论文
共 12 条
[1]   DUPLICATION WITHIN CHROMOSOME-17P11.2 IN 12 FAMILIES OF FRENCH ANCESTRY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE-1A [J].
BRICE, A ;
RAVISE, N ;
STEVANIN, G ;
GUGENHEIM, M ;
BOUCHE, P ;
PENET, C ;
AGID, Y .
JOURNAL OF MEDICAL GENETICS, 1992, 29 (11) :807-812
[2]   2 AUTOSOMAL-DOMINANT NEUROPATHIES RESULT FROM RECIPROCAL DNA DUPLICATION/DELETION OF A REGION ON CHROMOSOME-17 [J].
CHANCE, PF ;
ABBAS, N ;
LENSCH, MW ;
PENTAO, L ;
ROA, BB ;
PATEL, PI ;
LUPSKI, JR .
HUMAN MOLECULAR GENETICS, 1994, 3 (02) :223-228
[3]   PREVALENCE OF HEREDITARY MOTOR AND SENSORY NEUROPATHY IN CANTABRIA [J].
COMBARROS, O ;
CALLEJA, J ;
POLO, JM ;
BERCIANO, J .
ACTA NEUROLOGICA SCANDINAVICA, 1987, 75 (01) :9-12
[4]   Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications deletions [J].
Haupt, A ;
Schols, L ;
Przuntek, H ;
Epplen, JT .
HUMAN GENETICS, 1997, 99 (05) :688-691
[5]   ANALYSIS OF THE CMT1A-REP REPEAT - MAPPING CROSSOVER BREAKPOINTS IN CMT1A AND HNPP [J].
KIYOSAWA, H ;
LENSCH, MW ;
CHANCE, PF .
HUMAN MOLECULAR GENETICS, 1995, 4 (12) :2327-2334
[6]   DNA DUPLICATION ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE TYPE-1A [J].
LUPSKI, JR ;
DEOCALUNA, RM ;
SLAUGENHAUPT, S ;
PENTAO, L ;
GUZZETTA, V ;
TRASK, BJ ;
SAUCEDOCARDENAS, O ;
BARKER, DF ;
KILLIAN, JM ;
GARCIA, CA ;
CHAKRAVARTI, A ;
PATEL, PI .
CELL, 1991, 66 (02) :219-232
[7]   PRENATAL-DIAGNOSIS OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A) USING MOLECULAR-GENETIC TECHNIQUES [J].
NAVON, R ;
TIMMERMAN, V ;
LOFGREN, A ;
LIANG, P ;
NELIS, E ;
ZEITUNE, M ;
Van Broeckhoven, C .
PRENATAL DIAGNOSIS, 1995, 15 (07) :633-640
[8]   CHARCOT-MARIE-TOOTH TYPE-1A DUPLICATION APPEARS TO ARISE FROM RECOMBINATION AT REPEAT SEQUENCES FLANKING THE 1.5 MB MONOMER UNIT [J].
PENTAO, L ;
WISE, CA ;
CHINAULT, AC ;
PATEL, PI ;
LUPSKI, JR .
NATURE GENETICS, 1992, 2 (04) :292-300
[9]  
Raeymaekers P, 1991, Neuromuscul Disord, V1, P93, DOI 10.1016/0960-8966(91)90055-W
[10]   A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element [J].
Reiter, LT ;
Murakami, T ;
Koeuth, T ;
Pentao, L ;
Muzny, DM ;
Gibbs, RA ;
Lupski, JR .
NATURE GENETICS, 1996, 12 (03) :288-297