title: Accelerated prenatal diagnosis of fragile X syndrome by polymerase chain reaction restriction fragment detection.
abstract: Prenatal diagnosis of fragile X syndrome requires detection of the full FMR1 mutation in chorionic villus or amniotic fluid cell samples. Although analysis of genomic DNA restriction fragment pattern is a highly reliable technique for identification of the full FMR1 mutation, standard Southern blot determination of this pattern requires significantly more genomic DNA than is initially available from a prenatal sample. To overcome this limitation we developed a method that determines the diagnostic pattern of genomic restriction fragments from a fraction of a prenatal specimen. The prenatal DNA sample is first digested with EcoRI and EagI, and after agarose gel electrophoresis, the 2- to 10-kb region of the gel is serially sectioned and amplified by polymerase chain reaction. Analysis of prenatal samples from an unaffected male and from a full mutation male showed that this approach generated a diagnostic pattern comparable with a Southern blot of 100-fold more material. This innovation enables laboratories to prenatally diagnose the full FMR1 mutation sooner than standard techniques.
authors: Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA.
authors: C
authors: C
authors: Dobkin
authors: X
authors: X
authors: Ding
authors: S
authors: S
authors: Li
authors: G
authors: G
authors: Houck
authors: S L
authors: SL
authors: Nolin
authors: A
authors: A
authors: Glicksman
authors: N
authors: N
authors: Zhong
authors: E C
authors: EC
authors: Jenkins
authors: W T
authors: WT
authors: Brown
mesh_terms: D015139:Blotting, Southern; D015247:Deoxyribonuclease HindIII; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016601:RNA-Binding Proteins
chemical_list: D015247:Deoxyribonuclease HindIII; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human