No mutations detected in the INSR gene in a chromosome 19p13 linked migraine pedigree.
The aim of this study was to investigate through direct sequencing the insulin receptor (INSR) gene in DNA samples from a migraine affected family previously showing linkage to chromosome 19p13 in an attempt to detect disease associated mutations. Migraine is a common debilitating disorder with a significant genetic component. At present, the number and type of genes involved in the common forms of migraine are not clear. The INSR gene on chromosome 19p13.3-13.2 is a gene of interest since a number of single nucleotide polymorphisms (SNPs) located within the gene have been implicated in migraine with (MA) and without aura (MO). Six DNA samples obtained from non-founding migraine affected members of migraine family 1 (MF1) were used in this study. Genomic DNA was sequenced for the INSR gene in exons 1-22 and the promoter region. In the six migraine family member samples, previously reported SNPs were detected within two exonic DNA coding regions of the INSR gene. These SNPs, in exons 13 and 17, do not alter the normal INSR polypeptide sequence. In addition, intron 7 also revealed a DNA base sequence variation. For the 5' untranslated promoter region of the gene, no mutations or polymorphisms were detected. In conclusion, this study detected no INSR mutations in affected members of a chromosome 19 linked migraine pedigree. Hence, migraine linkage to this chromosomal region may involve other candidate genes.
Curtain
Robert
R
Genomics Research Centre, School of Health Sciences, Griffith University, Gold Coast, Qld, Australia.
Tajouri
Lotti
L
Lea
Rod
R
MacMillan
John
J
Griffiths
Lyn
L
D000328:Adult; D000368:Aged; D015220:Calcium Channels; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011972:Receptor, Insulin / Q000235:genetics*; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; D011972:Receptor, Insulin; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type