Article
Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.
American journal of human genetics - 1 Apr 1994
Jansen G, Willems P, Coerwinkel M, Nillesen W, Smeets H, Vits L, Höweler C, Brunner H, Wieringa B
Abstract excerpt
Myotonic dystrophy (DM) is caused by abnormal expansion of a polymorphic (CTG)n repeat, located in the DM protein kinase gene. We determined the (CTG)n repeat lengths in a broad range of tissue DNAs from patients with mild, classical, or congenital manifestation of DM. Differences in the repeat length were seen in somatic tissues from single DM individuals and twins. Repeats appeared to expand to a similar extent...
Topics
- Aged
- Alleles
- Blotting, Southern
- Codon
- DNA Mutational Analysis
- Female
- Gene Expression Regulation, Enzymologic
- Genetic Variation
- Genotype
- Germ-Line Mutation