title: Point mutation analysis of archived cytogenetic slide DNA.
abstract: Archived Giemsa-stained cytogenetic slide repositories represent valuable DNA resources for medical, scientific, and forensic studies. Sequencing readily identified a Charcot-Marie-Tooth disease point mutation in a 209-bp PCR amplified product. With optimal PCR primers and amplification conditions, our protocol quickly and reliably isolated sufficient DNA for at least 12 independent PCR amplification reactions for forensic and medical applications from single slides up to 5 years old.
authors: Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, USA.
authors: H
authors: H
authors: Sago
authors: J D
authors: JD
authors: Goldberg
authors: R V
authors: RV
authors: Lebo
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D006801:Humans; D008969:Molecular Sequence Data; D018993:Myelin P0 Protein / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011309:Preservation, Biological; D013048:Specimen Handling; D013997:Time Factors
chemical_list: D018993:Myelin P0 Protein