Mutation rate

HUNTINGTON’S DISEASE Huntington’s Disease is a primarily mental disease that has many different symptoms. Though the disease does mainly affect the mind and the brain, there are many physical effects that accompany it. The disease was first described by George Huntington in the late 1800s, however any further advancements in knowledge of the disease didn’t come until much later. People affected by this disease are affected in many different ways, and at many different times in their lives.…

Mutations are random. There are several reasons for mutations to occur. This essay will discuss what is a mutation, furthermore, it will examine different types of mutations that can occur, and it will inform you about how helpful and harmful mutations really are. Mutation is a change that occurs in the deoxyribonucleic acid sequence, gene or structure, due to mistakes that occur when the DNA is transcripted or because of environmental changes. Mutation occurs when there is a mistake in the…

Mutation can be a naturally reoccurring thing a concept that Charles Darwin helped explain way back when. For example, people with blue eyes (about 8% of the population) have a genetic mutation which changes the amount of melanin in the iris causing it to turn blue and be more sensitive to light. On the other hand is a man made mutation, this is what most people think of when they hear the word mutation. It's something that has been changed or is not…

gene, and thus, to Prader-Willi syndrome. UPD causes the affected individual to have two copies of chromosome 15 inherited from their mother instead of one copy from each parent. Prader-Willi syndrome can also be caused by a translocation, or by a mutation or other defect that inactivates genes on the paternal chromosome 15, however, this is very rare.…

Cornelia de Lange Syndrome Introduction Cornelia de Lange Syndrome is rare genetic disease it can affect multisystem disorder that has very serve intellectual disability starting at the time of 2nd trimester. The syndrome is often refer as also Brachmann de Lange syndrome or de Lange syndrome. Its most obvious symptoms are facial features such as body hair (hirsutism) with eyebrows that are arched and meet in midline (synophrys). This paper is inform the more detail about Cornelia de Lange…

can mean the difference between a normal life and a very difficult, painful, or even very short life. With technological advances in the field of genetics, such as the CRISPR-Cas9, it is now possible for geneticists to eliminate these single gene mutations that are lethal, extremely dangerous, or unbearable to the human race. Harlequin ichthyosis, cystic fibrosis and Smith-Lemli-Opitz syndrome are all caused by single genes and can potentially be edited out of the human genome. Harlequin…

For so many people, genetic disorders are a major issue and can cause many emotional and physical problems. One genetic disorder is Celiac, this is a disorder in which your small intestines are not able to work properly.This disease was discovered when some men were digging and found a woman that had died from a problem in her small intestines. They discovered Celiac about 2000 years ago. During 250 A.D the doctors called this disease “ koliakos” this means “suffering in the bowls” in greek.The…

Kyphoscoliosis type, Arthrochlasia type, and the Dermatosparaxis type. The mutations for this disease happens on these chromosomes, the Classical type is mostly on chromosome 9 or 2, the hypermobility type is on chromosome 6, the vascular type is mainly on chromosome 2. Mutation on chromosome 1 cause the Kyphoscoliosis type, mutations on chromosome 17 or 7 cause the Arthrochlasia type. The Dermatosparaxis type mutations happen on chromosome 5. The other well-characterized forms of…

X-linked intellectual disability is a genetically heterogeneous condition, due to mutations in at least 50 genes located on the X chromosome, involved in functioning of the central nervous system. It is estimated to affect approximately 1 in 600 males. There are two categories of hereditary ID; isolated ID with no other consistent defining features, known as nonspecific or non-syndromic ID and syndromic ID, which presents with variable penetrance and expressivity. Although numerous genes…

Epigenetics, a contemporary and often misunderstood topic in the field of biology, was first defined in the early 1940s as “the branch of biology which studies the causal interactions between genes and their products with bring the phenotype into being” (Dupont 2009). Since then, as understanding of the human genome has developed and grown, a complex array of errors and dysfunctions in the processes of gene regulation, expression, and replication have been shown to cause, or correlate strongly…