Genetics is the study of how living organisms pass on traits to each generation. It also explores the variations in every make-up of cells. Every living organism contains instruction manuals inside of their body. These instruction manuals are called genes. (Medicine, What is a gene?, 2015)Genes lie in long strands of deoxyribonucleic acid (DNA) called chromosomes. DNA containing genes form structures call chromosomes. Humans have 23 pairs of chromosomes. Chromosomes are made up of a single molecule of DNA and proteins. (Medicine, 2015) DNA is a double-stranded molecule compose with sugar, phosphate and four nitrogen bases called nucleotides. They are A (Adenine), C (Cytosine), G (Guanine) and T (Thymine). These bases …show more content…
(Stoppler, 2015) Fragile X syndrome is a genetic disease caused by a mutation in a gene on the X chromosome. X chromosome si the sex chromosome in human bodies. Females have two x chromosomes and males have one x and one y chromosomes. (Anderson, 2014)The specific gene that causes fragile x syndrome is called the Fragile X mental retardation one gene or FMR one gene. The FMR one gene is found in every cell of the body so this means that everyone has FMR one gene. The gene produces protein for brain developments. In the situation of fragile X syndrome, the FMR one gene either does not make proteins or makes only a small amount of it, which will affect the development of the brain. (Foundation, 2015) The chemical bases, CGG, make up a FMR one gene. The CGG repeats in the FMR one gene. In most people, the number of CGG repeats is between 6 and 50 repeats. This means that right amount of proteins are produced as needed for the body. Some people have 50 to 200 repeats of CGG. This situation is call the pre-mutation. However, proteins are still produced normally for some people while others may not have the enough amount of FMR protein. Fragile x syndrome occurs when a person has more than 200 CGG repeats in their FMR one gene. (Medicine, Fragile X Syndrome, …show more content…
Due to the problem of lack of fragile X protein, people with the disorder share a pattern of certain social, mental, sensory and physical characteristics. Some of the particular facial appearance included large head size, long face and forehead and chin are prominent. Some of the behavioural problems like hyperactivity, autism, aggression, hand flappy and hand biting. (Learning about fragile x syndrome, 2013)
Currently, there is no cure for fragile x syndrome. However, there are many treatments and interventions that can improve the people and their families who are affected by fragile x syndrome. Special education services are offered for most children with fragile x syndrome. Supportive therapy for people with fragile x syndrome includes behavioural therapy, speech therapy, family counselling, occupational therapy, etc... Medicines are also given to treat hyperactivity, anxiety and aggression. (Medicine, Fragile X Syndrome,