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NAME: KAREEM OMOBOLANLE DEPARTMENT: HUMAN NUTRITION DIETETICS MATRIC NO: 14/MHS02/033 COURSE: GENETICS BIO 201 IS MUTATION A CURSE OR A BLESSING? WHAT IS MUTATION? Mutation is the changing of the structure of a gene, resulting in a variant form which may be transmitted to subsequence the generations, caused by the alternation of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes. Most commonly, a single base substituted for another. Sometimes a base is deleted or an extra based added. Fortunately, the cell is able to repair most of these changes. When a DNA change remains unrepaired in a cell that will become an egg or a sperm, it is passed down to offspring. TYPES OF MUTATION DELETION: genetic material is removed or deleted. A few bases can be deleted or it can be complete or partial loss of a chromosome FRAMESHIFT: the insertion or deletion of a number of bases that is not a multiple of 3. This alters the reading frame of the gene and frequently results in a premature stop codon and protein truncation INSERTION: when genetic material is put into another region of DNA. This may be the insertion of 1 or more bases, or it can be part of one chromosome being inserted into another, non-homologous chromosome MISSENSE: a change in DNA sequence that changes the codon to be different amino acid. Not all missense mutations are deleterious, some changes can have no effect. Because of the ambiguity of missense mutations, it is often difficult to interpret the consequences of these mutations in causing disease NONSENSE: a change in the genetic code that results in the coding for a stop codon rather than an amino acid. The shortened protein is generally nonfunction or its function is impeded WHAT CAUSES MUTATION? Mutations can be caused by external (exogenous) or endogenous (native) factors, or they may be caused by errors in the cellular machinery. Physical or chemical agents that induce mutations in DNA are called mutagens and are said to be mutagenic. Exogenous factors: environmental factors such as sunlight, radiation and smoking can cause mutations. Endogenous factors: errors during DNA replication can lead to genetic changes as can toxic by-products of cellular metabolism. ADVANTAGES OF MUTATION SURVIVAL: mutations have allowed humans to adapt to their environment. For instance, lactose tolerance is a specific external mutation that was advantageous in societies that raised cows and goats. Mutations has been responsible for antibiotic resistance to malaria, and immunity to HIV, among other. A rare gene mutation leading to unusual shortness of height has proven to be advantageous. DIVERSITY: in 2008, professor Eiberg from the department of cellular and molecular biology stated, “originally, we all had brown eyes but a genetic mutation affecting the OCA2 gene in our chromosomes resulted in the creation of a ‘switch,’ which literally ‘turned off’ the ability to produce brown eyes” he explain further that things like “hair color, baldness, freckles and beauty spots” are all brought about by mutations. DISADVANTAGES OF MUTATION DISEASES: as much as mutations have helped humans, mutations are also the cause of certain diseases. For instance, E! Science news 2008 explains how a particular mutation relatively common on the Indian subcontinent predisposes people to heart disease. Many other diseases, such diabetes and asthma are linked to genetic mutations GENETIC DISORDER: a genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. Abnormalities can range from a small mutation in a single gene to the additional or subtraction of an entire chromosome or set of chromosomes. Non-disjunction is one of the most common types of mutations. Down syndrome is non-disjunction and a common genetic disorder that has other consequences such as developmental delays.