The Genetic Mutation Fragile X Syndrome Essay - 922 Words

The genetic mutation Fragile X syndrome is the most commonly inherited form of intellectual disability. Because the disease was first studied in 1943 by British physician James Purdon Martin and British human geneticist named Julia Bell, Fragile X is also referred to as Martin-Bell syndrome. Though it was not until 1969 that scientist Herbert Lubs discovered what exactly causes Fragile X syndrome. He explained that those who obtain the mutation will possess an X chromosome with an unusual gap. The gap located on the chromosome is called a ‘fragile site,’ which is where the name originates from. Fragile X is genetically passed down to offspring, so researchers are striving to improve the symptoms in hopes that they can create a better future for the victims. Genetic mutations are lifelong variances in DNA sequences. The majority of disease-causing gene mutations are unusual in the overall population. The two major classifications of gene mutations are germinal and somatic mutations. Germinal mutations are immediately inherited from a parent, and they will affect every single cell. If the DNA from the sperm or egg cell contains a mutation, the resulting fertilized egg also inherits the mutation. Somatic mutations occur by environmental factors or when an error appears during DNA replication. Unlike germinal mutations, a somatic mutation only affects the mutated cells. Mutations typically have a negative connotation; however, they are not always harmful,Show MoreRelatedThe Genetic Mutation Fragile X Syndrome Essay960 Words   |  4 PagesThe genetic mutation Fragile X syndrome occurs on a segment of human DNA. Because the disease was first studied in 1943 by British physician James Purdon Martin and British human geneticist named Julia Bell, Fragile X is also referred to as Martin-Bell syndrome. Though it was not until 1969 that scientist Herbert Lubs discovered what exactly causes Fragile X syndrome. He explained that those who obtain the mutation will possess an X chromosome with an unusual gap. The gap located on the chromosomeRead More The Neurobiology of Mental Retardation: Fragile X Syndrome Essay1549 Words   |  7 PagesRetardation: Fragile X Syndrome In my previous paper, I wrote on the topic of the nature-nurture debate and the ways it related to the brain-equals-behavior dilemma. In this paper, I will continue this investigation into the link between genes and neurobiology, but I will focus in on a particular aspect of the relationship: neurological disease caused by genetic aberration. There are many well studied and well documented (thought not necessarily well understood) disorders associated with the X chromosomeRead MoreGenetic Disorders and Down Syndrome Essay969 Words   |  4 PagesA genetic disorder is a disease that is caused by an abnormality in an individuals DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes† (Letsou). Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appe arance and cause mild to severe mental retardation. Fragile XRead MoreEssay on Fragile X Syndrome1374 Words   |  6 Pagesmental impairment is Fragile X Syndrome. Fragile X Syndrome is a mental retardation that affects social, learning and intellectual disabilities. It is a result of a change and mutation in a single gene, which can be pasted on to future generations. Symptoms arise when the mutated gene, FMR1, cannot produce enough of the protein, FMRP, that the body’s cells need to function. The symptoms can vary from each affected individual depending on how severe the gene mutation is. Fragile X causes symptoms suchRead MoreWomen s Illness History And Family History Essay2159 Words   |  9 Pages PBL 2- FRAGILE X SYNDROME FUNMED PBL WRITE UP ROSHAN RAYMOND INTRODUCTION Fragile X is said to be â€Å"the most common cause of inherited intellectual disability†(CDC, 2016) and generally is more prevalent in men than it is in women. This paper will look at the genetic inheritance of Fragile X syndrome but also some general information regarding the genetic disorder. It will also include the methods by which genetic diseases are diagnosed and how genetic counselling is used to aid patientsRead More The Etiology of Autism Essay1704 Words   |  7 PagesThe Etiology of Autism Autism is a syndrome that is characterized by the impairment of social interaction skills, verbal and nonverbal communication, and a decreased interest in participating in a variety of activities. In 1943, Kanner, the man who is attributed with the identification of this disease, hypothesized that autism might be a biological disorder as opposed to a psychological one. Numerous studies have been conducted supporting Kanner’s hypothesis. These studies have ranged from examiningRead MoreVariations and Characteristics of Mental Retardation Essay example1100 Words   |  5 Pagesin intellectual functioning and behaviors in expressing conceptual, social and practical skills in approximately one to three percent of the United States (Sue, Sue, Stanley, 2010). Mental retardation is categorized by the DSM-IV-TR as being a genetic disorder usually first diagnosed in infancy, childhood or adolescence, and is not considered to be a cognitive disorder. 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I feel like that combination, in my child s case, is what resulted in autism.† Holly Robinson could have not said it in a better way. What is the cause of autism? Is autism solely caused by genetics or a combination of genetics and environmental influences? What does make up autism spectrum disorders? With so much research by professionalsRead MoreAutism Spectrum Disorder ( Asd )909 Words   |  4 Pagesand language skills. The genetic architecture of ASD is comprised of a variety of rare mutations. These mutations include monogenic conditions involving autistic symptoms. Furthermore, single nucleotide variants and de novo copy number variants add to disease susceptibility. Inherited Factors Related to ASDs Autosomal recessive loci are assisting scientists in understanding the inherited factors related to autism. Scientists are hopeful that the discovery of these mutations will offer them an opportunity