Molecular Genetics: What It Is and How It’s Used in DNA Testing
Updated on March 18, 2024
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Molecular Genetics: What It Is and How It’s Used in DNA Testing

Genetics has become one of the most diverse branches of science as it deals with heredity, inheritance, and how certain traits are expressed.

Molecular genetics focuses more on the molecules at work in genetics—specifically DNA, RNA, and the proteins responsible for expressing traits.

This branch of genetics is instrumental in diagnosing genetic disorders. With molecular genetics, scientists and doctors can pinpoint abnormalities or changes within gene sequences.

The study of human DNA has propelled modern medicine towards actionable solutions for even the most difficult genetic conditions and mutations. By observing the molecular structure of DNA, geneticists can determine any deviation and mutation that may cause trouble down the road.

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What is Molecular Genetics?

Molecular genetics is concerned with what makes DNA—that is, the molecules that are at work.1 It’s a biomedical science concerned with human genes and the genetic material DNA consists of, as well as their nucleotide sequences and structures at the molecular level.

It is also considered the marriage of genetics and molecular biology, the study of the building blocks of every object.

This science shows us how genes inside our DNA determine everything from eye color to disease risk.

Geneticists, scientists, and medical professionals can determine how genes work and how any divergence from the norm can contribute to genetic disorders and abnormalities by exploring the special processes and properties of DNA molecules and their molecular mechanisms.

Molecular genetics breaks down into smaller fields, including:

  • Genomics – The study of the nucleotide sequence, how it works, how it functions in chromosomes in living organisms, etc.
  • Proteomics – The study of proteins when it comes to DNA replication

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Is Molecular Genetics Different from Genetics?

Yes. Molecular genetics falls under genetics.

Genetics is a broader branch of biology that deals with anything related to genes, traits, and inheritance. It’s the study of how genes are passed down from parents to offspring through DNA sequences.2

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19th-century monk Gregor Mendel’s famed pea plant experiments laid the foundation for modern genetics. Since then, niche branches of genetics have become specializations, such as:

  • Classical genetics
  • Developmental genetics
  • Evolutionary genetics
  • Molecular genetics
  • Neurogenetics
  • Population genetics
  • Statistical genetics

What is DNA Made Up Of?

DNA, or deoxyribonucleic acid, has a double helix structure that’s made up of chemical components called nucleotides.3

Nucleotides, which form the DNA ‘ladder’, have three important parts:

  • A phosphate group — Creates a covalent bond with the sugar group to keep the DNA structure intact
  • A sugar group — Creates a covalent bond with the phosphate group to keep the DNA structure intact
  • A nitrogenous base — Carries genetic information and, when multiplied, creates an amino acid sequence that becomes protein, which is the carrier of most day-to-day bodily functions

The entirety of an organism’s set of DNA or genetic material is called a genome. Each genome has all the instructions necessary for an organism to develop.

Every cell in that organism will have the same genome so that when they replicate themselves, they all still contain the exact same instructions.

What is Molecular Genetic Testing?

Molecular genetic testing is when a DNA segment or a gene sequence is inspected for any mutations.4 A DNA strand is often looked closely at and analyzed to determine any variations at the molecular level.

It’s compared to normal genetic material and any deviations or mutations are taken note of. Any variance in a gene is then explored.

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Different mutations can lead to different genetic conditions. For example, a copy of a chromosome can lead to specific genetic disorders, depending on which chromosome has been duplicated.

Other conditions can also arise from the complex interplay of multiple genetic variants. So a thorough study of the DNA sequence is necessary to determine potential congenital risks.

A DNA molecule can also be further looked at to see how its structure contributes to the person’s traits.

Genetic tests can be a little pricey, but it’s well worth the price tag when you consider what they can tell you.

Molecular Genetics in Practice

Molecular genetics is being used today all over the world. It’s especially used in a lot of genetic research and genetic testing.

Molecular Genetics in Ancestry

When you get a genetic test done to find out more about your ancestry and heritage, you are investing in molecular genetics.

Your DNA sequence may exhibit similarities with the sequences of people who originate from a certain region. If you share certain key similarities, it’s a good indicator that you or your ancestors may also be from that area.

This helps you unlock more of your past and potentially provide you with closure around your past. Who knows, you may even find out you have royal ancestry.

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Molecular Genetics in Health

If your parents had a genetic test done on you when they were pregnant with you to determine if you were at risk for any genetic disease, molecular genetics provided the results.

Geneticists and genetic counselors who tap into family history and rely on testing delve into your molecular structure and practice molecular genetics to give you better insight into your health. Many human diseases can be traced in family medical history via molecular genetics.

You can also determine if any diseases run in your family and what you can do to prevent contracting them.

Molecular Genetics in Biological Sciences

In biological sciences, molecular genetics helps us understand the molecular basis of living things. It reveals the ‘why’ behind how our bodies work at the very smallest level.

The biology of genes has helped us understand why certain genes are expressed over others, how we inherit traits, and the way our alleles work together.

Through the biological lens of genetics, we’ve been able to develop more medicine, apply more agricultural uses, and even explore gene editing.

Molecular Genetics in Forensic Science

Molecular genetics has made strides in forensics, given that it’s allowed us to identify DNA matches via fingerprints or other potential DNA samples.

It’s also a huge help in the courtroom, as legal systems often use DNA testing to prove paternity or exonerate crimes.

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Updated on March 18, 2024
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4 sources cited
Updated on March 18, 2024
  1. “Molecular Genetics.” Biology Online.

  2. “Genetics.” NIH.

  3. “DNA Fact Sheet.” NIH.

  4. “Molecular Genetics Testing.” StatPearls.

Angela Natividad
Angela Natividad
Content Contributor
Angela is a full-time digital content manager and editor for Know Your DNA. She also contributes freelance articles to several local and international websites when she has the time. She's always been a voracious believer in finding the truth and ensuring the science is sound.