DNA Mutations

What are DNA mutations?

DNA mutations are changes that occur in the nucleotide sequence of DNA. There are many different types of mutations according to causes, part of DNA affected by mutation and its impacts.

Definition of DNA

DNA (deoxyribonucleic acid) is a long molecule that is contained in the core of almost every one of our cells. The double helix is a carrier of genetic information, RNA (ribonucleic acid) is involved in the realization of this information. Deoxyribonucleic acid can be compared to a computer. If we would use it as a storage medium, then in 1000 liters of water could be contained as much DNA with memory, as it has been produced by all the computers in the world together.

What makes up DNA?

It consists of individual parts called bases. The purine bases A (adenine), G (guanine) and pyrimidine T (thymine in RNA it represents uracil) and C (cytosine). Each of its molecule consists of two separate coils that are connected by hydrogen bonds.  ‘A’ pair is always on one side of the bridge and opposite thereto is always ’T’. Likewise, the pair C and G. The combinations of the A / T and C / G are called base pairs. Spiral turns into a shape called the double helix. Partial DNA millions of bases long in conjunction with some proteins form a chromosome. DNA is stored in our cells as chromosome.

DNA change with thrombophilia

DNA mutations that causes thrombophilia (thrombophilic gene mutation) changes the programming of the body’s blood clotting process. This occurs in a process called gene mutation that changes the information in DNA. Congenital thrombophilia or thrombophilic gene mutation, such as Factor V Leiden mutation, a mutation in the MTHFR gene, prothrombin mutation etc., can be diagnosed only by examination of DNA – searching specifically for these mutations. The cause of inherited thrombophilia cannot be cured because it is encoded in our genes. We can only prevent complications or treat consequences.

Most common thrombophilic gene mutations:

  • Leiden mutation – it is a point mutation in the form of substitution of G nucleotide (guanine) for A (adenine) at the point 1691 in the DNA molecule of this gene (FV G1691A). Consequently, the amino acid arginine (Arg = R) is substituted for glutamine (Gln = Q) in the peptide chain in place 506 (FV R506Q).
  • MTHFR gene mutation – distinguish the two polymorphisms – A1298C polymorphism consists of substitution of adenine for cytosine at 1298 nukleotid. C677T polymorphism is a point mutation (substitution) of C (cytosine) for T (thymine) at position 677, resulting in amino acid substitution of alanine (Ala = A) for valine (Val) at the point 223 in the peptide chain.
  • Mutation of the prothrombin gene – G20210A regards the substitution of glutamine for arginine at position 20210 in the noncoding region of the prothrombin gene.
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