Inheritance Patterns & Human Genetics Chapter 12 Chromosomes & Inheritance Section 12.1 What makes human males different than females? Sex chromosomes (X and Y) Male: XY Female: XX Gametes: Egg: carry only X Sperm: carry either X or Y Who Discovered Sex Chromosomes? Thomas Morgan Early 1900s Columbia University (USA) Worked with fruit flies Sex Linkage: When genes are found on the sex chromosomes X-linked Genes: genes on the X chromosome Y-linked Genes: genes on the Y chromosome Sex Linked Traits Most sex linked genes are found on the X chromosome Only genes on the Y chromosome are for male reproductive organ development Sex Linked Genetic Problems In flies: R = red eyes, r = white eyes Gene located on the X chromosome X X Y X Example 1: White eye male mates with a red homozygous dominant female XrY x Xr Y XR XRXr XRY XR XRXr XRY XRXR 100 % red female 0 % white female 100 % red male 0 % white male Example 2: Red eye male mates with a red heterozygous female XRY x XR Y XR XRXR XRY Xr XRXr XrY XRXr 100 % red female 0 % white female 50 % red male 50 % white male Example 3: White eye male mates with a red heterozygous female XrY x Xr Y XR XRXr XRY Xr XrXr XrY XRXr 50 % red female 50 % white female 50 % red male 50 % white male Linkage Groups Genes located on the same chromosome and therefore inherited together Goes against Mendel’s Law of Independent Assortment How do linked genes get “unlinked”? Crossing Over The frequency of crossing over between certain genes is used to make a chromosome map Which two genes have the highest probability of crossing over? The lowest? a A b B Highest: A & C Lowest: A & B c C Chromosome Map: Diagram of the linear order of genes on a chromosome Sex Linkage Problems!!!! Use these genotypic symbols for the sex linked trait of red-green color blindness in humans to solve the problems that follow. "Normal" female = XBXB Carrier female = XBXb Color-blind female = XbXb Normal male = XBY Color-blind Male = XbY 1) A normal female marries a color blind male. What are the chances that the offspring will be color blind if they are females? What are the chances that the offspring will be color blind if they are males? 2) A color blind female marries a normal male. How many of the female offspring will be carriers of the color blind allele? 3) A man whose mother is color blind marries a woman with normal vision. What is the genotype of the husband? What percent of their offspring can be expected to be color blind? What percentage of their offspring can be expected to be carriers? How do biologist keep track of inherited traits over generations in a family? Pedigree (page 241) Pedigree Key Normal male Marriage Affected male Unmarried Normal female Affected female Dead Let’s try some pedigree problems! R = Tongue Roller r = No Tongue Roller John Jones, a tongue roller, marries Jill Smith, a woman that cannot roll her tongue. John and Jill have four children that can each roll their tongue: John Jr., Alice, Lisa, and Sean. John Jr. later marries non-tongue roller Pamela, and they have four children: Jessica, Sherri, Mary, and John III. Sherri and Mary both can roll their tongues, and Jessica and John III are non-tongue rollers. Sean marries Robin, a nontongue roller. Both Robin’s parents are nontongue rollers also. Sean and Robin have four children: Nicholas, Harry, Donna, and Sean Jr. Nicholas, Harry and Donna each have the ability to roll their tongues. Sean Jr. cannot. Human Genetics Section 12.2 Human genetics is not as easy as Mendel’s peas! Many patterns of inheritance Human Patterns of Inheritance 1. 2. 3. 4. 5. Single allele trait Multiple allele trait Polygenic trait X-linked trait Nondisjunction 1. Single Allele Trait A trait that is controlled by a single allele of a gene Normal dominant-recessive (Mendel) Example Genetic Disorders: Huntington’s Disease (autosomal dominant) Cystic Fibrosis (autosomal recessive) 2. Multiple Allele Trait 3 or more alleles of the same gene code for a single trait Example: ABO Blood Type IA = type A (dominant) IB = type B (dominant) i = type O (recessive) Blood Type Problems If a person is type A blood….what is his/her genotype? IAIA or IAi If a person is type B blood….what is his/her genotype? IBIB or IBi If a person is type O blood….what is his/her genotype? ii If a person is type AB blood….what is his/her genotype? IA IB Blood Type Problems A mother gives birth to a type O child. The mother is type A blood. The two potential fathers are type A (father 1) and type AB (father 2). Who’s the daddy? 3. Polygenic Trait Trait that is controlled by 2 or more genes Range of phenotypes Influenced by environmental factors too Examples: skin color eye color human height 4. X-Linked Trait Trait controlled by a gene on the X chromosome Examples: colorblindness (recessive) hemophilia (recessive) Hemophilia Pedigree 5. Nondisjunction The failure of chromosomes to separate during meiosis resulting in one gamete with too many chromosomes and one gamete with too few chromosomes Trisomy Monosomy Trisomy: cell with 3 copies of a chromosome (too many chromosomes) Monosomy: cell with 1 copy of a chromosome (too few chromosome) Example Genetic Disorders: Down Syndrome (Tri-21) Klinefelter’s Syndrome (XXY) Turner’s Syndrome (X__) Mutations that Lead to Genetic Disorders: Mutation: a change in the DNA of an organism Can involve an entire chromosome or a single nucleotide Can lead to genetic disorders Mutation Types 1. Germ-cell mutation: occurs in the germ cells (gametes) 2. Somatic-cell mutation: occurs in the organism’s body cells 3. Does not affect the organism Does affect the organism’s offspring Does affect the organism Does not affect the organism’s offspring Lethal mutation: causes death, often before birth 4. Chromosome mutation: change in the structure of a chromosome a. Deletion b. Inversion c. Translocation d. Nondisjunction 5. Gene mutation: involves large segments of DNA or a single nucleotide of DNA a. Point mutation: single nucleotide mutation within a codon b. Frame shift mutation: cause the misreading of codons during translation thus making the wrong protein Detecting Human Genetic Disorders Before Pregnancy: 1. 2. During Pregnancy: 1. 2. Genetic Screening Genetic Counseling Amniocentesis Chorionic Villi Sampling After Birth: 1. Genetic Screening