Mutation

• DNA Mutation - the change in genetic material of an organism
• DNA Molecule - where the genetic material is found which is located in the nucleus
• Mutation can occur in: Internal Factors (errors in DNA replication) and External Factors (exposure to chemicals and radiation)
• Internal Factors - wrong nucleotides
• External factors - environmental factors
• DNA Mutation occurs during Cell Division
• Mitosis - Somatic Cells
• Meiosis - Sex Cells
• DNA Mutation happens in the nucleus
• The affects of Mutation can be neutral, beneficial, and harmful
• Mutation can cause: Vision or hearing loss, breathing problems, and risk of cancer
• Mutation helps our body to protect itself and projects our body from diseases
• TWO TYPES OF MUTATION: Gene Mutation and Chromosomal Mutation
• Gene Mutation - happens in the DNA during DNA replication that can be categorized into two: Point Mutation and Frameshift Mutation.
• Point Mutation can result into three: Silent (no negative effects), Misense (change in base but the protein is still functional), and non-sense (change in base but the protein is not functional and stops codon)
• Frameshift Mutation - the deletion of chromosomes or the changing in the amino acids and potentially leads to a non-functional protein (deletion and insertion occurs)
• Chromosomal Mutation - where chromosomal aberration occurs and is non-disjunction
• Chromosomal Aberration - is the change of the number chromosomes
• Types of Chromosomal Mutation - Deletion, Insertion, Inversion, duplication, and Translocation
• Deletion - loss a part of Chromosome

  
• Duplication - an extra copy made of part of chromosome

  
• Inversion - reverses direction of part of chromosome

  
• Translocation - a part of one attaches to another chromosome

  
• Insertion - addition of one or more nucleotides into a segment of DNA

  
• Mutations occur - spontaneously
• PATTERNS THAT CAN PASS MUTATION: Autosomal Dominant, Autosomal Recessive, X-linked dominat, x-linked recessive, x-linked, y-linked, codominant, and mitochondrial
• Autosomal dominant - only one parent is needed to pass the mutation
• Autosomal dominant and Autosomal Recessive happens in autosomes
• Autosomal Dominant - their is a 50% chance for the child to inherit the mutation
• Example of Autosomal Dominant: Marfan Syndrome
• Autosomal Recessive - present in the X chromosome
• Autosomal Recessive - both parents are needed to pass the mutation
• Autosomal recessive - if both parents are carriers they have a 25% to have a normal child, 50% chance to have a healthy child, and 25% to have a child with the mutation
• Example of autosomal recessive: Sickle Cell Disease (affects the hemoglobin)
• Male - has a x and y chromosome
• Female - has both x chromosomes
• X - 100 genes
• Y - 25 genes (neutral)
• X-linked dominant - only one mutation on the x chromosome needs to pass from one parent to a child
• Example of x-linked dominant: Fragile X syndrome (large ears)