Article
Evidence of founder chromosomes in fragile X syndrome.
Nature genetics - 1 Jul 1992
Richards R I, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown W T, Goonewardena P, Tarleton J, Schwartz C
Abstract excerpt
The mutation responsible for fragile X syndrome and myotonic dystrophy involves the amplification of a simple trinucleotide repeat sequence, which increases in successive generations of affected pedigrees accounting for increasing penetrance of both disorders. This common molecular basis suggests that the two diseases may share other genetic features, but whereas myotonic dystrophy exhibits a significant founder...
Topics
- Base Sequence
- Female
- Fragile X Syndrome
- Haplotypes
- Humans
- Male
- Mutation
- Pedigree
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid
- X Chromosome