Point mutation

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  • Stubble Case Study

    environment (Yehuda, 2011). The rate of mutation, particularly in bristles, occurs often. One specific example of a mutation that occurs in bristles is known as Stubble (Sb). Sb was discovered by Bridges in 1923. Sb was used by Dr. Muller in his studies of balancer chromosomes (Muller, 1958).…

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  • The Importance Of Lactase

    Lactase persistence is the result of a gene mutation and therefore considered the mutant allele while non-persistent is the wild-type allele. However, the LCT gene itself is not mutated. The single base pair mutation (a change from a “C” to a “T”) occurs in an intron of a neighboring gene that lies 13,910 nucleotides upstream, which alters the process in which the LCT gene is turned on and off (Biology 225 Lab Manual 2016). This mutated DNA complex interacts with another protein to alter…

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  • Rett Syndrome (RTT)

    Mutations in the gene coding for Cyclin-Dependent Kinase-Like 5 (CDKL5) present like early-seizure onset Rett 's and cause severe mental retardation. They can show features similar to Rett Syndrome even lacking the MECP2 mutation. (8) Patients with mutations in the FOXG1 gene can present with the congenital variant of Rett’s. The gene codes for a protein which may share common roles with MECP2 in brain development. (9) Diagnosis Diagnosis of Rett’s is clinical, not genetic. The main criteria,…

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  • Conclusion Of Cystic Fibrosis

    many other parts in your body. The disease is caused by a defective gene called the CFTR gene. These genes code to produce CFTR proteins which are used to transport water and particles into or out of cells. This helps maintain a healthy balance of water and salt in your body. However in people with Cystic Fibrosis, these genes cannot properly code proteins, causing very thick mucus. This can cause blockage in the lungs and digestive system. Cystic Fibrosis severely affects many people and can…

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  • Achondroplasia Case Study

    (fibroblast growth factor receptor 3) gene causes is Achondroplasia. Furthermore, Achondroplasia means the absence of chondrocyte formation in bones. Additionally, the transformation of chondrocytes into bone cells is prevalent in the limbs as well as the facial bones of humans (1). Therefore, the predominant symptom of Achondroplasia is bone growth retardation and is found in the limbs as well as facial bones. The majority of people diagnosed with Achondroplasia have parents that are…

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  • Basal Cell Carcinoma Case Study Solution

    Background Basal cell carcinoma can be defined as a malignant neoplasm in humans. Basal cell carcinoma originates in the areas between the follicles, subject to a spontaneous mutation. BCC’s can be organized into four categories: nodular, morpheaform, metatypical, and superficial. BCC can be treated generally through SMO inhibitors, for example, vismodegib (Ximena 398). Vismodegib is a molecule inhibitor of the Hedgehog (Hh) pathway (Pricl 389). The pathogenesis of BCC is the inapposite…

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  • Wolff-Parkinson-White Case Study: Hereditary Diseases

    Hereditary diseases are genetic disorders that occur when mutated genes carrying certain mutations are transferred from parents onto an offspring. Genes are the factors that codes for proteins and deficient form of gene cause due to mutation in genes give rise to deficient form of protein. Wolff-Parkinson-White (WPW) syndrome is a hereditary disease. WPW syndrome causes chronic heart disease which is associated with ventricular pre-excitation and a thicker ventricle muscle. Patients with the…

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  • Duchenne Muscular Dystrophy (DMD)

    recessive mutations in a gene called dystrophin. The dystrophin gene is located on the X chromosome (Xp21.2). Because the X-linked disorder is recessive it occurs mostly in males because males who inherit the mutated chromosome from their carrier mother do not have another copy of the X chromosome to negate it. Symptoms can be first noticed at a very young age when the affected individual is slower to start sitting, standing and walking independently than other children of their age (2). However…

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  • The Cause And Effects Of Rett Syndrome (RTT)

    The type of mutation varies between cases, and there is no definitive genetic mutation for the syndrome. The mutations are believed to arise de novo in the paternal germline. This means that the alteration of the gene is present for the first time in the family member as a result of a mutation in the sperm cell of the father. Frameshift, missense, and nonsense mutations are the proposed point mutations that lead to MECP2 alterations (Chahrour, M., Huda, Z. 2007). Point mutations are caused by a…

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  • Wilsons Disease Case Study

    The disorder is inherited in an autosomal recessive manner. Wilson's Disease is found in most populations in the world and especially in those in which consanguineous marriage is common. WD is frequently estimated to be around 1 in 5,000 or 1 in 30,000. The carriers' frequency, however, is around 1 in 90(6). There are various defects that have been identified in the ATP7B Genes associated with Wilson's disease patients, most of those defects are found in the transmembrane region of the…

    Words: 783 - Pages: 4
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