Balao‚ Mike Paul C. MT1311 Chromosomal aberrations are abnormalities in the structure or number of chromosomes and are often responsible for genetic disorders. For more than a century‚ scientists have been fascinated by the study of human chromosomes. It was not until 1956‚ however‚ that it was determined that the actual diploid number of chromosomes in a human cell was forty-six (22 pairs of autosomes and two sex chromosomes make up the human genome). In 1959 two discoveries opened a new era
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through proteins. The experiment presented tests how enzymes affect the pigment in the eye of Drosophila. What was resulted in this experiment is that when certain enzymes change‚ a mutation is created‚ causing the change of pigments in the different Drosophila’s eyes. The production of one enzyme is one gene and a mutation of this gene can cause an enzyme to be inactive which leads to the phenotype changing. Introduction: George W. Beadle and Edward L. Tatum discovered that DNA controls the synthesis
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Genetic tests are a viable method of detecting specific mutations or changes in the gene that codes for Hex-A; whereas‚ blood tests measures the level of Hex-A in a person’s blood. Blood tests occur postnatally and have a 98 percent accuracy of detecting the disease in individuals; whereas genetic tests can be performed during the family planning stages and have a 50 to 60 percent accuracy of detecting mutations in carriers. Genetic tests are generally not too expensive and ensures
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growth‚ and infertility affect other parts of the body. A breathing treatment for cystic fibrosis‚ using a mask nebulizer and a ThAIRapy Vest A breathing treatment for cystic fibrosis‚ using a mask nebulizer and a ThAIRapy Vest CF is caused by a mutation in the gene for the protein cystic fibrosis trans-membrane conductance regulator (CFTR). This protein is required to regulate the components of sweat‚ digestive juices‚ and mucus. CFTR regulates the movement of chloride and sodium ions across epithelial
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S142 – TMA01 Question 1 (a) (b) (c) (d) S142 – TMA01 Question 2 S142 – TMA01 Question 3 S142 – TMA01 Question 1 (a) Pedigree chart showing three generations of members of a family and whether they are affected by the Piebald trait. KEY: Names which have been circled are those persons who are affected by the Piebald trait. Page 1 of 4 Question 1 (b) Piebald trait appears to be a dominant trait related to an autosomal gene. Looking at the people who are affected‚ only one parent in each case is
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genetic material‚ is present. One chromosome in the pair is inherited from the mother; one from the father. Different forms of the same gene are called alleles‚ they can be dominant or recessive‚ and they arise when DNA code mutates. These DNA code mutations can be neutral and show no effect in human; it may be beneficial; but also it can cause a disease. Different diseases are being inherited through different patterns. Huntington ’s disease is inherited through Autosomal dominant pattern; cystic fibrosis
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Muscular dystrophy (MD) can be described as a group of diseases that cause continuing weakness and loss of muscle mass. (Article 1‚ pg.1) Muscular dystrophy effects homeostasis because abnormal genes (mutations) interrupts the production of proteins that the body needs to form healthy muscle. (Article 1‚ pg.1) The nine major forms of muscular dystrophy are Myotonic‚ Duchenne‚ Becker‚ Limb-girdle‚ Facioscapulohumeral‚ Congenital‚ Oculopharyngeal‚ Distal‚ and Emery-dreifuss. (Article 2‚ pg.1-2) The
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"A dog is the only thing on earth that loves you more than you love yourself‚" said Josh Billings. Dogs of all breeds are loving companions‚ but pitt bulls get a bad reputation. Many see pitt bulls as malicious and aggressive animals; however‚ pit bulls are extraordinary pets because they are easy to train‚ socially orientated‚ and low maintenance. Pit bulls are easy to train because they are responsive and smart. They seek to please their owners and are sensitive to their owner’s feelings. Their
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person together. Thus‚ connective tissues that function to support the body are necessary. Marfan syndrome is an inheritable‚ autosomal disease of the connective tissues resulting from a lack of the fibrillin-1 glycoprotein (Brown). The missense mutation on the FBN1 gene producing the fibrillin-1 protein decreases the amount produced available for function with other proteins (Defective Secretion)‚ facilitating deficient connective tissue formation. Fibrillin-1 normally binds to calcium molecules
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still organized Dysplasia- more cells that normal but not organized Carcinoma in situ- severe dysplasia. it is still pre-cancer‚ benign tumor. Use the car analogy to describe the basic differences between oncogenes and tumor suppressor gene mutations in the development of cancer. 1. Turning on oncogens (go signals‚ step on gas‚ gas petal is stuck‚ stuck accelerator) 2. Losing tumor suppressor (cutting the brakes) 3. Becoming immortal/immortalization (endless tank of gas) 4. Loss of apoptosis-
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