Exclusion mapping of the genetic predisposition for cervical artery dissections by linkage analysis

被引:22
作者
Grond-Ginsbach, C
Klima, B
Weber, R
Striegel, J
Fischer, C
Hacke, W
Brandt, T
Hausser, I
机构
[1] Univ Heidelberg, Dept Neurol, D-69120 Heidelberg, Germany
[2] Univ Heidelberg, Inst Human Genet, D-69120 Heidelberg, Germany
[3] Univ Heidelberg, Dept Dermatol, D-69120 Heidelberg, Germany
关键词
D O I
10.1002/ana.10268
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Skin biopsies from a patient with a dissection of the left internal carotid artery and from four of his children were analyzed by electron microscopy. The index patient and three children showed mild but regular electron microscopic connective tissue aberrations. They were considered as carriers of an unknown autosomal dominant mutation. Thirty-four candidate genes involved in the biosynthesis of the extracellular matrix were excluded by genetic linkage analysis as possible sites of a disease causing mutation in this family (logarithm of odds [LOD]-score less than -2.0).
引用
收藏
页码:359 / 364
页数:6
相关论文
共 20 条
[1]  
Beighton P, 1998, AM J MED GENET, V77, P31, DOI 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO
[2]  
2-O
[3]   Pathogenesis of cervical artery dissections -: Association with connective tissue abnormalities [J].
Brandt, T ;
Orberk, E ;
Weber, R ;
Werner, I ;
Busse, O ;
Müller, BT ;
Wigger, F ;
Grau, A ;
Grond-Ginsbach, C ;
Hausser, I .
NEUROLOGY, 2001, 57 (01) :24-30
[4]   Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissections [J].
Brandt, T ;
Hausser, I ;
Orberk, E ;
Grau, A ;
Hartschuh, W ;
Anton-Lamprecht, I ;
Hacke, W .
ANNALS OF NEUROLOGY, 1998, 44 (02) :281-285
[5]   Tissue inhibitors of metalloproteinases: evolution, structure and function [J].
Brew, K ;
Dinakarpandian, D ;
Nagase, H .
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY, 2000, 1477 (1-2) :267-283
[6]   Functional domains on elastin and microfibril-associated glycoprotein involved in elastic fibre assembly [J].
BrownAugsburger, P ;
Broekelmann, T ;
Rosenbloom, J ;
Mecham, RP .
BIOCHEMICAL JOURNAL, 1996, 318 :149-155
[7]   Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections [J].
Grond-Ginsbach, C ;
Weber, R ;
Haas, J ;
Orberk, E ;
Kunz, S ;
Busse, O ;
Hausser, I ;
Brandt, T ;
Wildemann, B .
STROKE, 1999, 30 (09) :1887-1890
[8]   Mutations in the tropoelastin gene (ELN) were not found in patients with spontaneous cervical artery dissections [J].
Grond-Ginsbach, C ;
Thomas-Feles, C ;
Werner, I ;
Weber, R ;
Wigger, F ;
Hausser, I ;
Brandt, T .
STROKE, 2000, 31 (08) :1935-1938
[9]   THE 1993-94 GENETHON HUMAN GENETIC-LINKAGE MAP [J].
GYAPAY, G ;
MORISSETTE, J ;
VIGNAL, A ;
DIB, C ;
FIZAMES, C ;
MILLASSEAU, P ;
MARC, S ;
BERNARDI, G ;
LATHROP, M ;
WEISSENBACH, J .
NATURE GENETICS, 1994, 7 (02) :246-339
[10]  
HAUSSER I, 1994, HUM GENET, V93, P394