Accessing Genetic Information with High-Density DNA Arrays

TLDR

Rapid access to genetic information drives the molecular genetics revolution, and the described methods are generic for studies of gene expression, linkage, and variability. The simultaneous analysis of the entire human mitochondrial genome is described here. DNA arrays with up to 135,000 probes were synthesized by light‑directed chemistry, and a two‑color labeling scheme enables simultaneous comparison of polymorphic targets to reference DNA or RNA. Complete hybridization patterns were obtained within minutes, and sequence polymorphisms were detected with single‑base resolution and unprecedented efficiency.

Abstract

Rapid access to genetic information is central to the revolution taking place in molecular genetics. The simultaneous analysis of the entire human mitochondrial genome is described here. DNA arrays containing up to 135,000 probes complementary to the 16.6-kilobase human mitochondrial genome were generated by light-directed chemical synthesis. A two-color labeling scheme was developed that allows simultaneous comparison of a polymorphic target to a reference DNA or RNA. Complete hybridization patterns were revealed in a matter of minutes. Sequence polymorphisms were detected with single-base resolution and unprecedented efficiency. The methods described are generic and can be used to address a variety of questions in molecular genetics including gene expression, genetic linkage, and genetic variability.