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HUMAN GENETICS Mutations, Sex-linked traits, Disorders, Pedigrees What’s a Mutation? A change in DNA sequence Two types: Changes in a single gene (called gene mutation) Changes in a whole chromosome (called chromosomal mutation) What’s a Mutation? Gene Mutations: Two types… 1. Point Mutation One nucleotide is affected … that is… ONE LETTER IS WRONG! TTA-GTA-CCG becomes TAA-GTA-CCG (usually changes one amino acid in a protein) What’s a Mutation? Gene Mutations: Two types… 2. Frameshift Mutation Addition or deletion of one letter (nucleotide) Sequence is “read” one letter off from correct way TTA-GTA-CCG TTT-AGT-ACC-G becomes thesunwashotbuttheoldmandidnotgethishat What’s a Mutation? Chromosomal Mutations 1. Deletion Part of chromosome is missing What’s a Mutation? Chromosomal Mutations 1. Deletion Part of chromosome is missing 2. Duplication Part of chrom. is included twice What’s a Mutation? Chromosomal Mutations 1. Deletion Part of chromosome is missing 2. Duplication Part of chrom. is included twice 3. Inversion Part of chrom. is reversed from usual direction What’s a Mutation? Chromosomal Mutations 1. Deletion Part of chromosome is missing 2. Duplication Part of chrom. is included twice 3. Inversion Part of chrom. is reversed from usual direction 4. Translocation Two non-homologous chrom. exchange portions Mutagens Can alter DNA’s ability to be edited (corrected) Affects gamete and somatic cell formation Sources Ultraviolet radiation Radioactive substances X - rays Chemical exposure What’s a Mutation? Some mutations are significant and severe, some are less so, some are never noticed… Consider the car… Sex-Linked Traits Sex-linked diseases are X linked… The sex chrom. are the X and y Consider Hemophilia (the inability for blood to clot properly) Also Colorblindness (the inability to distinguish certain colors) Gene that can cause it found on X chrom. Sex-Linked Traits Hemophilia (sex-linked recessive) Females/Males: XH XH XH Xh Xh Xh XH y Xh y Female, clots Female, clots (carrier) Female, can’t clot Male, clots Male, can’t clot Other Disorders While mutations are generally gene related and inherited from one or both parents, sometimes OTHER reasons cause problems… NONDISJUNCTION The parent’s genes can be fine. But during MEIOSIS of the gametes, too many or too few chromosomes were pulled into the new gamete cell… Normal Male Karyotype: 22 sets of autosomes, 1 set of sex chromosomes Inheritance Patterns AUTOSOMAL DOMINANT Only one mutated gene on one chrom. is needed to display the disorder AUTOSOMAL RECESSIVE Two copies of mutated gene must be present to display the disorder X-Linked DOMINANT Mutations on the X chrom. that are dom. X-Linked RECESSIVE (like hemophilia) Pedigrees A pedigree chart is a tool used to show all the known phenotypes of an organism and its ancestors… Used in human genealogy study Pedigrees Let’s build one…