Point mutation

2007). The mutations render the transcriptional repressor dysfunctional, and therefore MECP2 is not able to ‘turn off’ genes that are normally turned off during development. This leads to an imbalance in gene expression in the brain, which can have vast neuron impacts…

might make their child strong and smart, listen to Mozart hoping it would boost the IQ of their child or do yoga and exercises that will benefit the life of the child. However, not every parents are able deliver a healthy child because the genetic mutation and diseases that cause the child die before birth or at a very young age. With the advancement in biotechnology, genetic engineering will be able to make the offspring of these parents healthy. According to dictionary.reference.com genetic…

The four forces of evolution include mutation, gene flow, genetic drift, and natural selection. Mutation occurs when the base pairs in DNA change which leads to different codons being read during translation. Most mutations create codons for the same amino acid that the normal codon would have made but sometimes a different amino acid is made and that leads to changes in the organism's phenotype. Gene flow happens when two different populations come together and reproduce with each other. 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…

Another common feature seen is Low pinna, cleft palate, and thin lips that point downward. Individual may present microcephaly, heart defects, seizures, low pitched cry, low birth weight, short stature and also gastro esophageal reflux, with reflux problem presented the child with have trouble feeding and low expectancy to thrive…

putting a women's life at risk. Ovarian cancer is the 5th leading cause of cancer related deaths in women ages 35-74 years with an estimated 1-2 out of every 100 women developing it at some point in their life (Torpy, 2011). Ovarian cancer is hard to detect and is often found after the cancer has metastasized to a point where the cancerous cells can no longer be managed or removed. The survival rate of ovarian cancer is relatively low due to the difficult detection of the disease. However, when…

the father and another from the mother. Causes: Sickle cell anemia results from a change in the normality of a specific hemoglobin called hemoglobin S. The change in hemoglobin S results from a mutation (point mutation) in which a single nucleotide substitution occurs. In sickle cell anemia a point mutation occurs where the glutamate amino acid of protein forming Deoxyribonucleic acid (DNA) is replaced by valine amino acid. Signs and Symptoms: 1- Acute Pain (Sickle Cell or Vaso-occlusive)…

Institution for Basic Research in Developmental Disabilities, and The University of Michigan discovered the cause was a single point mutation. A substitution of one point on a gene called Lamin A (LMNA), causes Progeria. As Progeria is caused by a gene mutation in the sperm before conception,…

INTRODUCTION Charcot-Marie-Tooth (CMT) disease is the most common inherited neurological disorder, affecting 1 in every 2500 people.1 The disease attacks the peripheral nervous system, progressively reducing nerve conduction speed in the body’s extremities resulting in gradual muscle weakness, sensory loss, and muscle atrophy.2 Affected individuals in the initial stages of the disease suffer from feet and hand deformities that limit function and sensation. Moreover, in advanced cases patients…

Werner’s syndrome (WS) is a very rare autosomal recessive disease that will cause premature aging for both men and women, where symptoms may start showing up during or after puberty and will continue on through their entire lifetime.1 This being said, there is a great disproportion between a patient’s real age and the perceived appearance age. A patient that is diagnosed with WS will age progressively faster than its peers, and the median lifespan is around 54 years of age.2 Another name for…