Victor McKusick, “Mendelian Inheritance in Man: A Catalogue of Human Genes and Genetic Disorders”, 1966 was the topic of an earlier blog post.
Here I present: David Deamer & Daniel Branton, “Characterization of Nucleic Acids by Nanopore Analysis”, Accounts of Chemical Research, year 2002, volume 35, pages 817-825.
When a nanopore is present in an electrically-insulating membrane, it can be used as a single-molecule detector. It can be a biological channel in a high electrical resistance lipid bilayer, a pore in a solid-state membrane, or a hybrid of these – a protein channel set in a synthetic membrane (shown in diagram ABOVE).
The detection principle is based on monitoring the ionic current passing through the nanopore as a voltage is applied across the membrane. When the nanopore is on molecular dimensions, passage of molecules (e.g. DNA) causes interruptions in the “open” current level, leading to a “translocation event” signal. Purines and pyridines are monomer of nucleic acids; and, translocation signals are base-specific.
Here I presented: David Deamer & Daniel Branton, “Characterization of Nucleic Acids by Nanopore Analysis”, Accounts of Chemical Research, year 2002, volume 35, pages 817-825.
Instruments currently available are state-of-the art, based on modern biochemistry. David Deamer and Daniel Branton developers of this instrumentation spent over three (3) decades developing the concept into fruition of hardware.
The “genetic code” is shown BELOW. The RNA bases (UCAG) are equivalent to the twenty (20) amino acids. This technique of Daemer-Branton is essential for humans which have 20,412 genetically coded proteins in their 211 different cell types. Daemer-Branton instrument (shown schematically BENEATH) reads “abecedarian” nucleic acids of amino acid proteins.
Diana Elder, Nicole Dyer & Robin Wirthlin, “Research Like a Pro with DNA: A Genealogist’s Guide to Finding & Confirming Ancestors with DNA Evidence”, 2021 was the topic of an earlier blog post.