Point mutation

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…

Neuroblastoma is a malignant hemorrhagic tumor composted principally of cells resembling neuroblasts that give rise to cells of the sympathetic system. Cancer starts when cells in the body begin growing out of control. Neuroblastoma is a type of cancer that starts in early forms of nerve cells found in an embryo/ fetus. Neuroblastoma is by far the most common cancer in infants less than 1 year old. Neuroblastoma is accountable for about 6 percent of all cancer in young children. The prefix…

causes brain damage and progressive nervous system degeneration. MSUD is caused by mutations in three different genes: BCKDHA, BCKDHB and DBT (Warrell, Cox and Firth, 2012). The BCKDHA gene causes MSUD Type Ia due to the mutation in the E1α subunit, BCKDHB causes Type Ib due to the mutation in the E1ᵦ subunit, and DBT causes Type II due to defect in the E2 subunit (Strauss, Puffenberger and Morton, 2006). Mutations in these genes result in decreased or absent activity of the human…

This essay provides a brief description of Familial Adenomatous Polyposis (FAP), a mutation on the APC gene (Cleveland Clinic, 2016, pg. 1). It discusses the beginning ages for FAP and some genetic testing options for said disease, including how accurate such tests are. The remaining portion of this paper explores my stated opinion on whether or not adolescents should be tested for late-onset genetic diseases, such as FAP. A Brief Description of Familial Adenomatous Polyposis (FAP)…

Genetic Variation Testing On Lynch Syndrome Lynch Syndrome is an hereditary nonpolyposis colorectal cancer which is a disorder that increases the risk of many types of cancer. Researcher says that people who have lynch syndrome are more likely to develop colorectal cancer than anybody. The genetic test for lynch syndrome is MLH1. MLH1 is Mutl homolo g1, Colon cancer, nonpolyposis type 2. Lynch syndrome also have an risk of cancer of the stomach, small intestine, liver, gallbladder…

APC is a tumor repressor and essential a cell growth regulator. It inhibits uncontrolled growth of cells which may lead to cancer. Mutations of APC often lead to colorectal cancer. Small polyps, which are the overgrown cells, appear in the colon and later lead to malignancy. APC regulates how often the cell divides, the cell’s attachment the cells within a tissues, the morphogenesis of the cell’s 3D structures, and how the cell polarizes. In addition, the proteins check to make sure the number…