This caused the production of an inefficient CYP2C9 enzyme and as a result Henry was considered to be a poor metabolizer. 3. The function of a coding strand is the strand that is going to be transcribed. The function of a template strand is the complementary strand from the coding strand. The template strand is what is used as a template in the synthesis of
Biology Research Paper Duchenne Disorder (Duchenne Muscular Dystrophy) Duchenne disorder is classified as a very severe, rare case of muscular dystrophy, which is a group of inherited disorders that cause muscle weakness. It affects all voluntary muscles, as well as the heart and breathing muscles. This particular disease is, in fact, genetic. Unlike a lot of genetic disorders, Duchenne disorder occurs in people that do not have a family history of the condition. According to a study by the Muscular Dystrophy Campaign, in the United Kingdom, 1 of every 3500 males is born with Duchenne disorder.
The gene involve in the process is called dystrophin (DMD) gene. The dystrophin gene is the largest gene found in nature and is the one that produces a protein called dystrophin. This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. The dystrophin gene is inherited in families as X-linked recessive, in which case the offspring of the original carrier would have a very small chance of inheriting the trait (Kliegman , Bethrman , Jenson, Stanton 168). In figure 3 we can see the process of a mother transmitting the disease to a new born body.
Canavan disease occurs because of mutations in the aspartoacylase (ASPA) gene that affects the breakdown (metabolism) of the N-acetylaspartic acid (NNA). It is inherited as an autosomal recessive condition.
Cystic Fibrosis is a very serious inherited genetic disease which affects one child in every 2,500 Caucasian births. This disease usually affects the lungs and causes the build up of a thick mucus which causes chest infections. These infections unfortunately usually lead to death during childhood or early adulthood. On occasion, besides affecting the lungs, it affects the bowels and the pancreas, causing blockages in the intestines and poor absorption of food. Cystic Fibrosis may first appear in a newly born baby, or in children or young adults.
If you have CF, one of your genes is not working correctly. This is known as a CFTR gene, and is located on chromosome 7. There are several mutations that can happen in this gene, meaning that there are different severities of cystic fibrosis that can occur. CFTR helps to control how cells handle sodium and chloride ions. The mutation in CFTR causes the cells to be unable to handle sodium and chloride correctly.
SICKLE CELL ANEMIA Introduction Sickle cell disease is a generic term for a group of genetic disorders caused by the β-globin gene called sickle hemoglobin (Hb S) (Kock et al., 2000). The β-globin gene is located on the short arm of chromosome 11, and it is a member of the globin gene family involved in oxygen transport (Koch et al., 2000). Sickle cell disease is the most common single gene disorder in black Americans, and is also common in persons from Mediterranean countries, Turkey, the Arabian Peninsula, Caribbean, and the Indian subcontinent (Wethers, 2000). It is estimated that more than 50,000 Americans are affected with sickle cell disease, making this disease a one of the most prevalent genetic disorders in the United States
Werdnig-Hoffman Paralysis Definition In the early 1980s, Werdnig and Hoffman described a disorder of progressive muscular weakness beginning in infancy that resulted in early death, though the age of death was variable. Werdnig-Hoffman disease is a rare form of spinal muscular atrophy (SMA) presenting in infants. In pathologic terms, it is an autosomal recessive condition characterized by the degeneration of anterior horn cells, leading to profound symmetrical weakness and wasting of voluntary muscle. The central role of lower motor neuron degeneration was confirmed in subsequent pathologic studies demonstrating a loss of anterior horn cells in the spinal cord and cranial nerve nuclei. In other words, Werdnig Hoffman Paralysis/Disease
| | | |The protein ___myosin____consists of two twisted strands with globular cross-bridges projected outward along the strands. | |__actin___ is a globular protein with myosin binding sites. What two proteins are associated with it? Troponin and tropomyosin | |According to the sliding filament theory of muscle contraction, if allowed to, the myosin crossbridge attaches to the binding site on the actin filament | |and bends, pulling on the actin filament; it then releases and attaches to the next binding site on the actin, pulling again. What is preventing this from| |happening continuously?
This disease is one of the genetic disorder group called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is