No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures

被引：4

作者：

Windemuth, C ^{[1
]}

Schulz, H ^{[1
]}

Saar, K ^{[1
]}

Gennaro, E ^{[1
]}

Bianchi, A ^{[1
]}

Zara, F ^{[1
]}

Bulteau, C ^{[1
]}

Kaminska, A ^{[1
]}

Ville, D ^{[1
]}

Cieuta, C ^{[1
]}

Nabbout-Tarantino, R ^{[1
]}

Prud'homme, JF ^{[1
]}

Dulac, O ^{[1
]}

Bate, L ^{[1
]}

Gardiner, RM ^{[1
]}

Lindhout, D ^{[1
]}

Wienker, TF ^{[1
]}

Janz, D ^{[1
]}

Sander, T ^{[1
]}

机构：

[1] Humboldt Univ, Univ Hosp Charitie, Dept Neurol, Epilepsy Genet Grp, D-13353 Berlin, Germany

来源：

EPILEPSY RESEARCH | 2002年 / 51卷 / 1-2期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

absence epilepsy; genetics; linkage; replication; chromosome; 5;

D O I：

10.1016/S0920-1211(02)00097-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A recent genome-wide scan revealed suggestive evidence for two susceptibility loci for idiopathic generalized epilepsy (IGE) in the chromosomal regions 5p15 and 5q14-q22 in families with typical absence seizures. The present replication study tested the validity of the tentative IGE loci on chromosome 5. Our study included 99 multiplex families in which at least one family member had typical absence seizures. Parametric and non-parametric multipoint linkage analyses were carried out between the IGE trait and 23 microsatellite polymorphisms covering the entire region of chromosome 5. Multipoint parametric heterogeneity lod scores < -2 were obtained along chromosome 5 when a proportion of linked families greater than 50% was assumed under recessive inheritance and > 60% under dominant inheritance. Furthermore, non-parametric multipoint linkage analyses revealed no hint of linkage throughout the candidate region (P > 0.05). Accordingly, we failed to support previous evidence for common IGE loci on chromosome 5. If there is a susceptibility locus for IGE on chromosome 5 then the size of the effect or the proportion of linked families is too small to detect linkage in the investigated family sample. (C) 2002 Elsevier Science B.V. All rights reserved.

引用

页码：23 / 29

页数：7

共 19 条

[11] GENETIC DISSECTION OF COMPLEX TRAITS - GUIDELINES FOR INTERPRETING AND REPORTING LINKAGE RESULTS
LANDER, E
KRUGLYAK, L
[J]. NATURE GENETICS, 1995, 11 (03) : 241 - 247
[12] GENETIC DISSECTION OF COMPLEX TRAITS
LANDER, ES
SCHORK, NJ
[J]. SCIENCE, 1994, 265 (5181) : 2037 - 2048
[13] Identification of epilepsy genes in human and mouse
Meisler, MH
Kearney, J
Ottman, R
Escayg, A
[J]. ANNUAL REVIEW OF GENETICS, 2001, 35 : 567 - 588
[14] A SIMPLE SALTING OUT PROCEDURE FOR EXTRACTING DNA FROM HUMAN NUCLEATED CELLS
MILLER, SA
DYKES, DD
POLESKY, HF
[J]. NUCLEIC ACIDS RESEARCH, 1988, 16 (03) : 1215 - 1215
[15] PedCheck: A program for identification of genotype incompatibilities in linkage analysis
O'Connell, JR
Weeks, DE
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (01) : 259 - 266
[16] Genome search for susceptibility loci of common idiopathic generalised epilepsies
Sander, T
Schulz, H
Saar, K
Gennaro, E
Riggio, MC
Bianchi, A
Zara, F
Luna, D
Bulteau, C
Kaminska, A
Ville, D
Cieuta, C
Picard, F
Prud'homme, JF
Bate, L
Sundquist, A
Gardiner, RM
Janssen, GAMAJ
de Haan, GJ
Kasteleijn-Nolst-Trenité, DGA
Bader, A
Lindhout, D
Riess, O
Wienker, TF
Janz, D
Reis, A
[J]. HUMAN MOLECULAR GENETICS, 2000, 9 (10) : 1465 - 1472
[17] The genetics of idiopathic generalized epilepsy: Implications for the understanding of its aetiology
Sander, T
[J]. MOLECULAR MEDICINE TODAY, 1996, 2 (04): : 173 - 180
[18] SUAREZ BK, 1994, GENETIC APPROACHES M, P23
[19] Long-term prognosis of typical childhood absence epilepsy: Remission or progression to juvenile myoclonic epilepsy
Wirrell, EC
Camfield, CS
Camfield, PR
Gordon, KE
Dooley, JM
[J]. NEUROLOGY, 1996, 47 (04) : 912 - 918

← 1 2 →