Article
Detection of full fragile X mutation.
Lancet (London, England) - 1 Feb 1992
Pergolizzi R G, Erster S H, Goonewardena P, Brown W T
Abstract excerpt
In fragile X syndrome, the most common inherited cause of mental deficiency, the underlying mutation is a large increase in the number of CGG repeats in a gene on chromosome X. We have developed a polymerase chain reaction (PCR) method to amplify across the full mutation in affected individuals. In this report, a fragile X family including a positive prenatally diagnosed fetus was analysed by PCR, and the results...
Topics
- Amino Acid Sequence
- DNA
- Female
- Fragile X Syndrome
- Genetic Carrier Screening
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Pregnancy