Article
Prenatal diagnosis and carrier screening for fragile X by PCR.
American journal of medical genetics - 12 Jul 1996
Brown W T, Nolin S, Houck G, Ding X, Glicksman A, Li S Y, Stark-Houck S, Brophy P, Duncan C, Dobkin C, Jenkins E
Abstract excerpt
During the past three years, we have conducted fragile X DNA studies for carrier screening and prenatal diagnosis using a previously described PCR protocol that accurately resolves normal FMR1 alleles and premutations and detects most full mutations [Brown et al., JAMA 270:1569-1575, 1996]. A tot...
Topics
- Amniocentesis
- Chorionic Villi Sampling
- Female
- Fragile X Syndrome
- Genetic Carrier Screening
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis
- Trinucleotide Repeats