Basics of DNA Sequencing: Understanding the Genetic Makeup of an Organism

Monika Mate
3 min readJan 8, 2023

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DNA (Deoxyribonucleic acid) is the molecule that contains genetic information of an organism. It is present in almost all cells of the organism, primarily located in the cell nucleus, known as nuclear DNA. However, a small amount of DNA can also be found in the mitochondria, referred to as mitochondrial DNA (mtDNA).

DNA stores information in a form of code, composed of the four nitrogenous bases: adenine (A), guanine (G), thymine (T), and cytosine (C). These bases are attached to a sugar molecule and a phosphate molecule, forming a long strand that forms the double helix structure of DNA.

DNA sequencing is a laboratory-based process of determining the precise order of nucleotides within a DNA molecule. It is a crucial tool in modern biology, with applications ranging from understanding the genetic basis of disease to identifying species and studying evolution. Here, we will delve into the basics of DNA sequencing and its various applications.

The genetic code of an organism is stored in its DNA, and the sequence of bases in DNA is the fundamental unit of genetic information. DNA sequencing allows to determine the exact order of these bases in a specific piece of DNA. There are several methods that have been developed for DNA sequencing, ranging from early techniques like the chain-termination method (also known as Sanger’s method) to more modern approaches like next-generation sequencing (NGS). The next-generation sequencing technologies have mainly superseded first generation technologies. The next-generation technologies enable multiple and long DNA fragments sequencing at one time and are much faster and cost-efficient.

The first method for DNA sequencing was developed by Frederick Sanger in 1977 and is known as the chain-termination method or Sanger’s method. Other methods developed for DNA sequencing include the Maxam and Gilbert method, hybridization method, and next-generation sequencing (NGS).

The applications of DNA sequencing are vast and varied. In medicine, DNA sequencing is used to identify genetic variations that may cause or contribute to diseases. This can help clinicians to diagnose and treat patients more effectively, and it is also a key component of precision medicine, which aims to tailor treatments to an individual’s unique genetic makeup. DNA sequencing is also used in forensic science to identify and compare DNA samples, and it has played a central role in identifying the genetic basis of many inherited diseases.

In biology, DNA sequencing is used to study the evolution and relationships of different species. By comparing the DNA sequences of different organisms, scientists can learn about how they are related and how they have evolved over time. DNA sequencing is also used to identify and study the functions of individual genes and to understand the regulation of gene expression.

In summary, DNA sequencing is a powerful tool that has revolutionized many fields, including medicine, biology, and forensic science. Its applications continue to expand as new techniques are developed and our understanding of the genetic basis of life grows.

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