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.