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| LINKAGE ANALYSIS OF IDIOPATHIC GENERALIZED EPILEPSY (IGE) AND MARKER LOCI ON CHROMOSOME-6P IN FAMILIES OF PATIENTS WITH JUVENILE MYOCLONIC EPILEPSY - NO EVIDENCE FOR AN EPILEPSY LOCUS IN THE HLA REGION |
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| Author(s): WHITEHOUSE WP, REES M, CURTIS D, SUNDQVIST A, PARKER K, CHUNG E, BARALLE D, GARDINER RM |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 53 Issue: 3 Pages: 652-662 Published: SEP 1993 |
| Times Cited: 92 References: 42 |
| Abstract: Evidence for a locus (EJM1) in the HLA region of chromosome 6p predisposing to idiopathic generalized epilepsy (IGE) in the families of patients with juvenile myoclonic epilepsy (JME) has been obtained in two previous studies of separately ascertained groups of kindreds. Linkage analysis has been undertaken in a third set of 25 families including a patient with JME and at least one first-degree relative with IGE. Family members were typed for eight polymorphic loci on chromosome 6p: F13A, D6S89, D6S109, D6S105, D6S10, C4B, DQA1/A2, and TCTE1. Pairwise and multipoint linkage analysis was carried out assuming autosomal dominant and autosomal recessive inheritance and age-dependent high or low penetrance. No significant evidence in favor of linkage was obtained at any locus. Multipoint linkage analysis generated significant exclusion data (lod score < -2.0) at HLA and for a region 10-30 cM telomeric to HLA, the extent of which varied with the level of penetrance assumed. These observations indicate that genetic heterogeneity exists within this epilepsy phenotype. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV LONDON UNIV COLL, SCH MED, RAYNE INST, DEPT PAEDIAT, UNIV ST, LONDON WC1E 6JJ, ENGLAND
2. ST MARKS HOSP, DEPT PSYCHIAT, LONDON EC1V 2PS, ENGLAND
3. SODER HOSP, DEPT NEUROL, STOCKHOLM, SWEDEN |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: LU559 |
| ISSN: 0002-9297 |
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