Article
A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1.
Human molecular genetics - 1 Oct 1997
Breschel T S, McInnis M G, Margolis R L, Sirugo G, Corneliussen B, Simpson S G, McMahon F J, MacKinnon D F, Xu J F, Pleasant N, Huo Y, Ashworth R G, Grundstrom C, Grundstrom T, Kidd K K, DePaulo J R, Ross C A
Abstract excerpt
There are currently 13 diseases known to be caused by unstable triplet repeat mutations; however, there are some instances (as with FRAXF and FRA16) when these mutations appear to be asymptomatic. In a search for polymorphic CTG repeats as candidate genes for bipolar disorder, we screened a genom...
Topics
- Alleles
- Base Sequence
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
- Bipolar Disorder
- Blotting, Southern
- Cell Line
- Chromosomes, Human, Pair 18
- Cloning, Molecular
- DNA-Binding Proteins
- Female
- Gene Frequency
- Helix-Loop-Helix Motifs
- Humans