Genetic Mutation Project By: Blerina Dinaj

DNA is a very important part of any person in the world. This double helix can calculate who and what you are. The real meaning of DNA is Deoxyribonucleic acid. Almost every cell in a humans body is exactly the same. The DNA in a cell is actually held in the nucleus of the cell. Every organism has DNA that has genetic material that gives you directions to your body. Genome is in your cells and genome bases are build to preserve species in their purest state possible. Genome is also basically explaining the total amount of DNA even and organisms genes in a single cell.

DNA and GENOME
Example of defected chromosome through parent DNA

Genetic mutation:

Causes? A genetic mutation is when there is disturbance in a DNA sequence that creates a new gene or different pattern then the original. Mutations are different sizes they can affect from a single DNA (base pair) to a huge amount of a chromosome(s) that has many different genes that pertain to you, and might be lost.

Gene mutations can be classified in two major ways:

Hereditary muation

Some genes are passed down through generations or you can get certain mutations from your parents, this is called Hereditary mutations. These mutations are in many or most cells if you have this disease or mutation. This is called a germline. Like how germs spread between people the germline is usually in parents eggs or sperm cells. Meaning hereditary means passed on by genes.

Acquired Mutations

Acquired Mutations occur at some point randomly or during birth in a person’s life and are only in some or a few cells, usually never in every cell. Some changes in DNA strands or base(s) are caused by environmental disasters such as "ultraviolet radiation from the sun, or can occur if a mistake is made as DNA copies itself during cell division." An acquired mutation cannot go onto or be received into another generation.

Genetic disease

A disease that is genetically mutated such as (genetic mutation) can be caused by an unnatural thing in a persons DNA. Differences in a DNA strand can range from a single-base, or a genetic disorder can be as big as removing or adding an entire chromosome(s).

TURners dIsease

Girl with folds on her neck before and after surgery.

Inherited or DNA mutation?

Turners disease is a DNA mutation and can not be inherited. It is a random effect that happens during the baby is developing in the womb. This mutation of turners is named monosomy X meaning that out of the 46 chromosomes in a human only one sex cell (X) is given between the parents and one doesn't contribute at all resulting in turners syndrome. Since only one X is given that means it has to be a gir, so the girl is born with one X chromosome. Only girls can have turners but only 30% result in extra neck fat.

How is Turner syndrome diagnosed?

Turner syndrome some times takes place later when puberty does not occur so then doctors start to worry. Now since we have all this technology turners syndrome can now be recognized when you go for an ultrasound at the doctors. For this syndrome to be confirmed you might need to take more test such as "prenatal testing - chorionic villous sampling or amniocentesis - to obtain cells from the unborn baby for chromosomal".

Signs and Symptoms of the disorder

There are many signs and symptoms that kids have if you have TS. A thing that is not uncommon that usually happens for kids who have TS is that they have at birth or start to develop is lymphedema. Lymphedema is when the liquids and fluids you need are not flowing correctly and going to where they are necessary. Lymphedema leads to swelling in certain areas. Also a few other symptoms that can effect certain people if they have Turner syndrome is learning disabilities, non working ovaries, and growth spurts. Not many people who have Turner's go through purberty at all or grow at a very slow rate. Also people who have Turner's are infertile meaning they can not have babies but the some that do either have miscarriages or defects at birth. Kids also may have social problems mentally and becasue it is an affect from TS. When I say social problems I mean it might be hard to interpret other people's emotions or reactions, but some kids might find it hard to fit in because they think they are different.

THESE SYMPTOMS AND SIGNS CAN BE SEEN AT BIRTH OR WHEN YOU ARE VERY YOUNG OR AN INFANT

Ex. Cubitus valgus (arms turn outwards at the elbows), Eyelids that droop, High, narrow palate (roof of mouth), Low hairline at the back of the head, Low set ears, Short hands, slower/delayed growth, Small lower jaw, Smaller height at birth, Swelling of the hands and feet, Web-like neck, Wide neck.

How is TS Treated?

There are several ways to treat TS but there are many different symptoms to be treated. You should always have an earlier start in treatment or meditation (younger then 5 years old). To start growing at a normal pace or a little bit faster then what the rate of TS is you should take growth hormones prescribed from the doctors. Many girls that have TS have speach disabilities so to get that treated again start speach therapy at a young age. Girls with TS are likely to be born with or develop otitis media (inner ear infections, glue ear) later in life this will become a bad thing and can even lead to being deaf. A resolution can be you should go to an ENT (ear, nose and throat) specialist.

How are mutations beneficial?

Not all mutations are necessarily a bad thing or cause problems. Mutations can be beneficial because they can provide many advantages for people to maybe see better or maybe think faster.

Ex. Tetrachromatic vision

This mutation is very beneficial it is known as Humans with super vision. This mutation makes whoever has it see many colors that are blind to the rest of us. "Vermilion, puce, cerulean, periwinkle, chartreuse." These are some examples of colors that we have many names for but people with tetrachromatic vision can see many more colors that maybe makes them see much better.

Colors

What makes the odds of having this disease increase or decrease?

This condition is totally a random game and it happens about 1 in 2,500 new born babies. Nothing actually increases or decreases your chances of getting turners disease but it is most common for girls who are newborns that are do mot survive for to long such as (miscarriages and still births).

End (citations)

http://www.knowmuhammad.org/article-342

http://www.futura-sciences.com/sante/

definitions/medecine-adn-87/

http://slideplayer.com/slide/3907644/

https://en.wikipedia.org/wiki/Human_genome

https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation

https:/ghr.nlm.nih.gov/condition/down-syndrome

https://www.geneticliteracyproject.org/2016/02/18/bad-genes-may-not-mean-youll-get-disease/

https://ghr.nlm.nih.gov/condition/huntington-disease

http://kidshealth.org/en/parents/sickle-cell-anemia.html

http://www.medicalnewstoday.com/articles/176083.php

https://geneticmutationsperiod6.wikispaces.com/Turners+syndrome

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