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Writer's pictureMoran Sciamama-Saghiv

GENETIC MUTATIONS - EXPLAINED BY DR. SAGHIV - PART II

Updated: Oct 23, 2023

OOPS I DID IT AGAIN...

Genetic mutations by Dr. Saghiv

I have previously established that most genetic mutations or genetic mistakes do not see the light of day, and definitely do not spread through the population. Yet, some have "survived" the human body's mechanism and systems in place to prevent that from happening, and bit the odds, thus they exist.


In nature, as in the human body, blue and green eyes are mutations of the brown eyes. They are a genetic mistake that occurred in our past, and are often regarded as the same variation genetically. These two colors tend to be unstable up to the third year of life, and can alternate between themselves back and forth until the trait is stabilized.


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Theoretically, without the occurrence of genetic mutations, all human would have had brown eyes. Statistically, any mutation could still "be beaten" by the odds, and disappear from the human race. This is the case with "red hair" also known as "redheads" in slang. Since the prevalence of brown and black hair in the human population is enormously more extensive, over time, the chances that the allele for red hair is expressed decreases in a non-linear ratio.


Blonde hair is also a mutation of darker hair. While vastly more wide spread than red hair, it is still less dominant a trait compared to dark hair, especially black hair. Thus, natural chances dictate that one day will come and blonde hair disappears. Unless, proactive measures are taken to better the odds. Of course, this is not happening tomorrow, rather than many years ahead.


We discussed and established the fact that the "reading frame" of the genetic code, depend on very short sequences of three nucleotide each called codons. Furthermore, each codon as part of an mRNA molecule codes for one amino acid out of an entire polypeptide (i.e. a protein molecule). Thus, the simplest and fastest way for the occurrence of a genetic mutation is a change in the correct sequence of a codon, the could mess the reading frame.


The three main changes to a gene's sequence are commonly the result of one of the following: 1) part of the sequence is taken out (deleted); 2) A new sequence is added in (adding nucleotides or whole codons); 3) A single nucleotide changes its location within the sequence.


These changes to the sequence can lead to several consequences that range from harmless to lethal (deadly; can kill you). Let's survey the main options:

1) The mutation causes the creation of an amino acid that never existed before (extremely rare and unlikely); 2) The mutation causes a change in the amino acid that bears no meaning (good or bad); 3) The mutation causes a change in the amino acid to one that exists yet is different (this will most likely cause a change in function or a completely different protein created); 4) The mutation causes the entire reading frame to change, making vast part of the gene to be off.


We distinct 13 types of genetic mutations, or rather, 13 reasons and ways that genetic mutations are caused in the human body. These include the following: 1) Deletion; 2) Insertion; 3) Frameshift; 4) Missense; 5) Gene duplication; 6) Nonsense; 7) Silent; 8) Chromosomal inversion; 9) Chromosomal translocation; 10) Chromosome abnormality; 11) Germline; 12) Somatic; 13) Aneuploidy


Before I start analyzing each type of genetic mutation, how it occurs and what it can cause. Let's take a look at a few examples of what can result from genetic mutations:


Dextrocardia - the heart is positioned on the right side of the chest instead of its normal position on the left side. Sometimes it is positioned in the middle and beneath the normal location, also protrudes outwards in a way it can be seen from the outside.

Dextrocardia

Epidermodysplasia verruciformis (EV) is sometimes called "human tree disease". A very rare genetic syndrome that causes bark-like lesions.

Tree man syndrome

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Cyclops syndrome - results in one usually non-functional eye, in the middle of the forehead, resembling the mythical cyclops.

Cyclops syndrome

Werewolf syndrome - also known as congenital terminal hypertrichosis.Is characterized by the presence of fully pigmented terminal hair that covers the entire body.

Werewolf syndrome

Polymelia - a birth defect in which an affected individual has more than the usual number of limbs. It is a type of dysmelia.

Polymelia

Uncombable hair syndrome - a rare genetic condition that causes your child's hair to grow in multiple directions. This makes your hair rough, frizzy and dry and makes combing or brushing your hair difficult to impossible.

Uncombable hair syndrome

Mermaid Syndrome - is an extremely rare anomaly, in which a newborn born with legs joined together, resembling a mermaid's tail.

Mermaid Syndrome

Mirror hand syndrome - also known as ulnar dimelia is a very rare congenital anomaly characterized by symmetric duplication of the upper limb in the midline. In most cases there is mirrored symmetry with a central digit and 3 digits on either side representing the middle ring and small fingers.

Mirror hand syndrome

Lizard tongue syndrome - a rare genetic disorder the causes a person's tongue to resemble that of a lizard.

Lizard tongue syndrome

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