title: Polymerase chain reaction analysis of fragile X mutations.
abstract: The mutation that underlies the fragile X syndrome is presumed to be a large expansion in the number of CGG repeats within the gene FMR-1. The unusually GC-rich composition of the expanded region has impeded attempts to amplify it by the polymerase chain reaction (PCR). We have developed a PCR protocol that successfully amplifies the (CGG)n region in normal, carrier and affected individuals. The PCR analysis of several large fragile X families is presented. The PCR results agree with those obtained by direct genomic Southern blot analyses. These favorable comparisons suggest that the PCR assay may be suitable for rapid testing for fragile X mutations and premutations and genetic screening of at-risk individuals.
authors.affiliation: Department of Research, North Shore University Hospital, Cornell University Medical College, Manhasset, NY 11030.
authors.forename: S H
authors.initials: SH
authors.lastname: Erster
authors.forename: W T
authors.initials: WT
authors.lastname: Brown
authors.forename: P
authors.initials: P
authors.lastname: Goonewardena
authors.forename: C S
authors.initials: CS
authors.lastname: Dobkin
authors.forename: E C
authors.initials: EC
authors.lastname: Jenkins
authors.forename: R G
authors.initials: RG
authors.lastname: Pergolizzi
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015345:Oligonucleotide Probes / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D014960:X Chromosome
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D015345:Oligonucleotide Probes; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human