Disease about gene mutation or chromosome mutation are always oneof the great concerns of people because of the consequences they bring. Themost popular type is Down disease. The disease has raised unprecedented debatesabout whether people with Down syndrome can develop and integrate into thecommunity in a normal way. However, due to the characteristics of down syndromethat make the debates cannot end.
These features are divided into two mainmajor that are morphology and physiology. People with Down syndrome have somespecific characteristics: flat face, distal eye, sloping eyelid, small ear,thick and long tongue, slightly open mouth. In addition, people with Downsyndrome will be slow to develop cognitive, language, poor attention abilityand easy to get angry. Getting many different birth defects as the heart defector digestive system defect. Having the high risk of certain diseases such asreflux of the stomach, hearing problems and visual acuity, few people are atrisk for blood cancer. Moreover, Down syndrome is also associated withAlzheimer’s risk. There are 3 reasons lead to Down disease are: – There are 3 chromosomes 21 in all cells in the body.
Becausepeople with Down syndrome have three chromosomes 21, Down syndrome is oftenreferred to as Trisomy 21. ? – There are several chromosomes 21 on other chromosomes (usuallychromosome 14). This happens because of chromosome transitions. ? – There is an additional copy of some genes of chromosome 21, butnot in all of the body’s cells.
This is called mosaic-like syndrome. Patientsin this form often do not have the typical features of Down’s and are notseverely affected in the brain, in some cases are not detected. ?By observing the cells of people with Down syndrome using amicroscope. Scientists have discovered the disease with internal causes andexternal morphology.
However, scientists have yet to find a cure for Down’ssyndrome until now. Only prenatal diagnosis and counseling for families.Pregnant mothers who are older are easier to have a baby get Down’s syndrome.People who have been pregnant with a baby get Down’s syndrome will be at riskof having a baby with Down syndrome increase 1%. First andforemost, DNA is constantly subject to mutations, accidental changes in itscode. Mutations can lead to missing or malformed proteins, and that can lead todisease.
Let ‘s start by consider the facts that a genetic disease is anydisease being caused by an abnormality in an individual’s genome, the person’sentire genetic. And one example caused by a genetic disorder in one of severalgenes is Albinism. To begin with, Albinism is an inherited diseasecharacterized by a substantially lower rate of melanin production that is thepigment responsible for the color of the skin, hair, and eyes. The fact thatThere is no cure for albinism, but some symptoms can be treated. An estimated 1in 70 people carry the genes associated with albinism. The second thing I want to mention in here that causesof Albinism is some wrong in gene having responsibility for various aspects ofthe production of melanin by melanocytes in the skin and eyes.
Most commonly,the mutations interfere with the enzyme tyrosinase (tyrosine 3-monooxygenase)which synthesizes melanin from the amino acid tyrosine. The melanin productioncan either be slowed or completely stopped, depending on the mutation. What is more,Albinism is split into a number of subgroups depending on the specific genesthat are affected and having four main subgroups. There is Oculocutaneousalbinism (OCA ), X-linked ocular albinism, X-linked ocular albinism andChediak-Higashi syndrome. This is a reason why the most obvious symptom ofalbinism is a lighter skin tone, the white or brown hair and eye color changingfrom very light blue to brown. One more thingthat Albinism does not get worse with age, and a child with albinism is able toflourish.
However, the disease is genetic, there are no cures. The treatmentrevolves around minimizing the symptoms and watching for changes. In additionto melanin normally protects the skin from UV (ultraviolet) damage, people withthe disorder are more sensitive to sun exposure and have an increasedrisk of skin cancer.