Familial typical migraine: Linkage to chromosome 19p13 and evidence for genetic heterogeneity
Nyholt, Dale R., Lea, Rod A., Goadsby, Peter J., Brimage, Peter J., & Griffiths, Lyn R. (1998) Familial typical migraine: Linkage to chromosome 19p13 and evidence for genetic heterogeneity. Neurology, 50(5), pp. 1428-1432.
Migraine is a frequent familial disorder that, in common with most multifactorial disorders, has an unknown etiology. The authors identified several families with multiple individuals affected by typical migraine using a single set of diagnostic criteria and studied these families for cosegregation between the disorder and markers on chromosome 19, the location of a mutation that causes a rare form of familial hemiplegic migraine (FHM). One large tested family showed both cosegregation and significant allele sharing for markers situated within or adjacent to the FHM locus. Multipoint GENEHUNTER results indicated significant excess allele sharing across a 12.6- cM region containing the FHM Ca2+ channel gene, CACNL1A4 (maximum nonparametric linkage Z score = 6.64, p = 0.0026), with a maximum parametric lod score of 1.92 obtained for a (CAG)(n) triplet repeat polymorphism situated in exon 47 of this gene. The CAG expansion did not, however, appear to be the cause of migraine in this pedigree. Other tested families showed neither cosegregation nor excess allele sharing to chromosome 19 markers. HOMOG analysis indicated heterogeneity, generating a maximum HLOD score of 3.6. It was concluded that Chr19 mutations either in the CACNL1A4 gene or a closely linked gene are implicated in some pedigrees with familial typical migraine, and that the disorder is genetically heterogeneous.
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|Item Type:||Journal Article|
|Keywords:||article, chromosome 19, familial disease, gene location, gene locus, gene mapping, gene mutation, gene segregation, genetic heterogeneity, human, migraine, priority journal, tandem repeat, Calcium Channels, Chromosomes, Human, Pair 19, Female, Genetic Heterogeneity, Humans, Linkage (Genetics), Lod Score, Male, Microsatellite Repeats, Migraine Disorders, Pedigree, Software, Statistics, Nonparametric|
|Divisions:||Current > Institutes > Institute of Health and Biomedical Innovation|
|Copyright Owner:||Copyright 1998 Lippincott Williams & Wilkins|
|Deposited On:||08 Oct 2013 01:41|
|Last Modified:||27 Jan 2016 05:28|
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