Thrombophilic gene mutations

Under the term thrombophilic gene mutations are included mutations that cause inherited thrombophilia.

What do we know about thrombophilic gene mutations?

The most common thrombophilic gene mutations are:

  • Leiden mutation
  • MTHFR mutation
  • Prothrombin mutation

Before we get to the individual mutations let’s explain what are gene mutations and how they develop.

Mutation is the process that causes permanent changes in DNA. It may cause pathologies or may facilitate the acquisition of innovative enhanced features. Mutations are also responsible for genetic diversity of populations and human evolution.

The essence of mutations are either big changes (loss, duplication, structural rebuilding of chromosomes), or it may be called “Point mutations” (loss, duplication or remodeling of small sections of DNA),  that effects only a single nucleotide. It is not possible to recognize only at the clinical level, if a segment of DNA in the range of a single gene is affected or whether it is a region encoding several genes. Mutations occur in coding and non-coding portion of DNA. Variability of characters is governed by rules of combining genes, thus Mendel’s rules. New alleles arise from existing mutations. Mutation is almost always the change in the DNA. Gene mutation is the aggregate name for mutations in the genes.

If the DNA change  is so profound that will be reflected in the change of the entire chromosome, then we call it chromosome mutation or structural chromosome aberration.

If the mutation concerns the entire chromosome sets, all genes and chromosomes remain unchanged, the standard number of chromosomes is changed, and  therefore the total dose of the individual genes in the cell – this is referred to as genomic mutation, or as numerical aberrations of chromosomes.

Gene mutations and their meaning

In general, mutations are changes unprogrammed, uncoded and random. They have their cause, but occur spontaneously with a certain statistical probability. It is a permanent change for the whole life of the organism. They are transferable  to   the next generation if they affect gametes or when they are transferred into gametes through the cell division.

In most cases, these mutations represent a specific cell damage, loss or pathological change in a specific gene function. Organism protect itself against mutations, for example by double-strand DNA. If the damage affects only one string (which is normal), cellular repair mechanisms can repair the damage. So there is some ability to repair mutations. For the synthesis of the new chain it is paired with  recovered undamaged string with the correct sequence.

What is thrombophilia and what are its types?

What is the evolutionary meaning and causes of thrombophilia?

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