X-LINKED CHARCOT-MARIE-TOOTH DISEASE - A LINKAGE STUDY IN A LARGE FAMILY BY USING 12 PROBES OF THE PERICENTROMERIC REGION

被引:36
作者
MOSTACCIUOLO, ML
MULLER, E
FARDIN, P
MICAGLIO, GF
BARDONI, B
GUIOLI, S
CAMERINO, G
DANIELI, GA
机构
[1] UNIV PADUA,DIPARTMENTO BIOL,VIA TRIESTE 75,I-35100 PADUA,ITALY
[2] UNIV PAVIA,I-27100 PAVIA,ITALY
[3] UNIV PADUA,NEUROL CLIN,I-35100 PADUA,ITALY
关键词
D O I
10.1007/BF01213086
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Linkage analysis was performed on 41 subjects belonging to a large family with a recurrence of X-linked Charcot-Marie-Tooth disease (CMTX), by using 12 restriction fragment length polymorphism markers mapping in p11-q13. The results are in agreement with previous linkage data. Three new markers that are potentially useful for genetic analysis of CMTX families are described. A more precise estimate of the localization of the disease locus was attempted by multipoint linkage analysis.
引用
收藏
页码:23 / 27
页数:5
相关论文
共 14 条
[1]  
ARVEILER B, 1987, Genomics, V1, P60, DOI 10.1016/0888-7543(87)90105-4
[2]   LOCALIZATION OF X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE (CMT 2) TO XQ13 [J].
BECKETT, J ;
HOLDEN, JJA ;
SIMPSON, NE ;
WHITE, BN ;
MACLEOD, PM .
JOURNAL OF NEUROGENETICS, 1986, 3 (04) :225-231
[3]  
DESAINTBASILE G, 1987, P NATL ACAD SCI USA, V84, P7576
[4]   X-LINKED NEUROPATHY - GENE LOCALIZATION WITH DNA PROBES [J].
FISCHBECK, KH ;
ARRUSHDI, N ;
PERICAKVANCE, M ;
ROZEAR, M ;
ROSES, AD ;
FRYNS, JP .
ANNALS OF NEUROLOGY, 1986, 20 (04) :527-532
[5]   X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE - SUGGESTION OF LINKAGE WITH A CLONED DNA-SEQUENCE FROM THE PROXIMAL XQ [J].
GAL, A ;
MUCKE, J ;
THEILE, H ;
WIEACKER, PF ;
ROPERS, HH ;
WIENKER, TF .
HUMAN GENETICS, 1985, 70 (01) :38-42
[6]  
GOONEWARDENA P, 1988, CLIN GENET, V33, P435
[7]  
HAITES N, 1989, CLIN GENET, V35, P399
[8]  
IONASESCU V, 1990, J NEUROL SCI S, V98, P364
[9]   X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY WITH 15 CASES IN A FAMILY GENETIC-LINKAGE STUDY [J].
IONASESCU, VV ;
BURNS, TL ;
SEARBY, C ;
IONASESCU, R .
MUSCLE & NERVE, 1988, 11 (11) :1154-1156
[10]   A FAMILY WITH CHARCOT-MARIE-TOOTHS DISEASE, SHOWING A PROBABLE X-LINKED INCOMPLETELY DOMINANT INHERITANCE [J].
ISELIUS, L ;
GRIMBY, L .
HEREDITAS, 1982, 97 (01) :157-158