title: Rapid preparation of diagnostic probes for the fragile X syndrome by direct PCR amplification of human chromosomal DNA.
abstract: The fragile X syndrome is a common familial form of mental retardation and is associated with a rare fragile site at Xq27.3 (FRAXA). This disorder has recently been reported to correlate with length variations of restriction genomic DNA fragments which may due to the amplification of (CCG)n trinucleotide repeats located at the FRAXA locus. We described here a rapid preparation method of diagnostic DNA probes for the fragile X syndrome by direct enzymatic amplification of human chromosomal DNA. The PstI-assay, which is Southern blot analysis of DNA samples probed by PCR products, was shown to be sensitive method for diagnostic purposes to detect the size variations specific in the fragile X syndrome.
authors: Division of Genetics, National Institute of Radiological Sciences, Chiba, Japan.
authors: M
authors: M
authors: Yamauchi
authors: N
authors: N
authors: Seki
authors: T
authors: T
authors: Hori
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D004247:DNA / Q000235:genetics*; D015342:DNA Probes; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction / Q000379:methods*; D015183:Restriction Mapping; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D009838:Oligodeoxyribonucleotides; D004247:DNA