1、Genetics NotesWho is Gregor Mendel? Principle of Independent Assortment Inheritance of one trait has no effect on the inheritance of another trait,“Father of Genetics”,Traits Genetics study of how traits are passed from parent to offspring,Traits are determined by the genes on the chromosomes. A gen
2、e is a segment of DNA that determines a trait.,Chromosomes come in homologous pairs, thus genes come in pairs.Homologous pairs matching genes one from female parent and one from male parentExample: Humans have 46 chromosomes or 23 pairs.One set from dad 23 in spermOne set from mom 23 in egg,Gene for
3、 eye color (blue eyes),Gene for eye color (brown eyes),Homologous pair of chromosomes,One pair of Homologous Chromosomes:,Alleles different genes (possibilities) for the same trait ex: blue eyes or brown eyes,Dominant and Recessive GenesGene that prevents the other gene from “showing” dominantGene t
4、hat does NOT “show” even though it is present recessiveSymbol Dominant gene upper case letter TRecessive gene lower case letter t,Dominant color,Recessive color,Example: Straight thumb is dominant to hitchhiker thumb T = straight thumb t = hitchhikers thumb(Always use the same letter for the same al
5、leles No S = straight, h = hitchhikers),Straight thumb = TT Straight thumb = Tt Hitchhikers thumb = tt,* Must have 2 recessive alleles for a recessive trait to “show”,Both genes of a pair are the same homozygous or purebredTT homozygous dominanttt homozygous recessiveOne dominant and one recessive g
6、ene heterozygous or hybridTt heterozygous,BB Black Bb Black w/ white gene,bb White,Genotype and PhenotypeCombination of genes an organism has (actual gene makeup) genotypeEx: TT, Tt, ttPhysical appearance resulting from gene make-up phenotypeEx: hitchhikers thumb or straight thumb,White fur (b),Punn
7、ett Square and ProbabilityUsed to predict the possible gene makeup of offspring Punnett SquareExample: Black fur (B) is dominant to white fur (b) in miceCross a heterozygous male with a homozygous recessive female.,Black fur (B),White fur (b),Heterozygous male,White fur (b),Homozygous recessive fema
8、le,Write the ratios in the following orders:Genotypic ratio homozygous : heterozygous : homozygousdominant recessivePhenotypic ratiodominant : recessive,Possible offspring 2N,Male gametes - N (One gene in sperm),Female gametes N (One gene in egg),Male = Bb X Female = bb,Genotypic ratio = 2 Bb : 2 bb
9、50% Bb : 50% bbPhenotypic ratio = 2 black : 2 white50% black : 50% white,B,b,B,Genotypic ratio = 1 BB : 2 Bb : 1 bb25% BB : 50% Bb : 25% bbPhenotypic ratio = 3 black : 1 white75% black : 25% white,Cross 2 hybrid mice and give the genotypic ratio and phenotypic ratio.Bb X Bb,b,B,b,B,b,Example: A man
10、and woman, both with brown eyes (B) marry and have a blue eyed (b) child. What are the genotypes of the man, woman and child?,Bb X Bb Man = BbWoman = Bb,1 brown and curly,9 black and straight,3 black and curly,3 brown and straight,Gametes,Crossing involving 2 traits Dihybrid crossesExample: In rabbi
11、ts black coat (B) is dominant over brown (b) and straight hair (H) is dominant to curly (h). Cross 2 hybrid rabbits and give the phenotypic ratio for the first generation of offspring.,Possible gametes:BbHh X BbHh BH BH Bh Bh bH bH bh bh,Phenotypes - 9:3:3:1,Gametes,Gametes,100% black and straight,E
12、xample: In rabbits black coat (B) is dominant over brown (b) and straight hair (H) is dominant to curly (h). Cross a rabbit that is homozygous dominant for both traits with a rabbit that is homozygous dominant for black coat and heterozygous for straight hair. Then give the phenotypic ratio for the
13、first generation of offspring.,BBHH X BBHhPossible gametes: BH BHBh,(Hint: Only design Punnett squares to suit the number of possible gametes.),Phenotypes:,Sex Determination People 46 chromosomes or 23 pairs22 pairs are homologous (look alike) called autosomes determine body traits1 pair is the sex
14、chromosomes determines sex (male or female)Females sex chromosomes are homologous (look alike) label XX Males sex chromosomes are different label XY,X,Y,What is the probability of a couple having a boy? Or a girl?,Chance of having female baby? 50% male baby? 50%,Who determines the sex of the child?
15、father,X,X,Incomplete dominance and CodominanceWhen one allele is NOT completely dominant over another (they blend) incomplete dominanceExample: In carnations the color red (R) is incompletely dominant over white (W). The hybrid color is pink. Give the genotypic and phenotypic ratio from a cross bet
16、ween 2 pink flowers.RW X RW,R,W,R,W,Genotypic = 1 RR : 2 RW : 1 WW Phenotypic = 1 red : 2 pink : 1 white,When both alleles are expressed CodominanceExample: In certain chickens black feathers are codominant with white feathers.Heterozygous chickens have black and white speckled feathers.,Sex linked
17、TraitsGenes for these traits are located only on the X chromosome (NOT on the Y chromosome)X linked alleles always show up in males whether dominant or recessive because males have only one X chromosome,Examples of recessive sex-linked disorders:colorblindness inability to distinguish between certai
18、n colors,Color blindness is the inability to distinguish the differences between certain colors. The most common type is red-green color blindness, where red and green are seen as the same color.,You should see 58 (upper left), 18 (upper right), E (lower left) and 17 (lower right).,2. hemophilia blo
19、od wont clot,XN,Xn,XN,Y,Phenotype: 2 normal vision females1 normal vision male1 colorblind male,Example: A female that has normal vision but is a carrier for colorblindness marries a male with normal vision. Give the expected phenotypes of their children. N = normal visionn = colorblindness XN Xn X
20、XN Y,Pedigrees Graphic representation of how a trait is passed from parents to offspring Tips for making a pedigree Circles are for females Squares are for males Horizontal lines connecting a male and a female represent a marriage Vertical line and brackets connect parent to offspring A shaded circl
21、e or square indicates a person has the trait A circle or square NOT shaded represents an individual who does NOT have the trait Partial shade indicates a carrier someone who is heterozygous for the trait,Example: Make a pedigree chart for the following couple. Dana is color blind; her husband Jeff i
22、s not. They have two boys and two girls. HINT: Colorblindness is a recessive sex-linked trait.,XNY,Has trait,Can pass trait to offspring,XnXn,Multiple Alleles 3 or more alleles of the same gene that code for a single trait In humans, blood type is determined by 3 alleles A, B, and OBUT each human ca
23、n only inherit 2 alleles Dominant A and B (codominance) Recessive O 2. Blood type A = AA or AOB = BB or BO AB = ABO = OO,A,B,Example: What would be the possible blood types of children born to a female with type AB blood and a male with type O blood?,AB X OO,O,O,Children would be type A or B only,Mu
24、tations Mutation sudden genetic change (change in base pair sequence of DNA) Can be :Harmful mutations organism less able to survive: genetic disorders, cancer, death Beneficial mutations allows organism to better survive: provides genetic variation,Neutral mutations neither harmful nor helpful to o
25、rganism Mutations can occur in 2 ways: chromosomal mutation or gene/point mutation,Chromosomal mutation: less common than a gene mutation more drastic affects entire chromosome, so affects many genes rather than just one caused by failure of the homologous chromosomes to separate normally during mei
26、osis chromosome pairs no longer look the same too few or too many genes, different shape,Examples: Downs syndrome (Trisomy 21) 47 chromosomes, extra chromosome at pair #21,Turners syndrome only 45 chromosomes, missing a sex chromosome (X) Girls affected short, slow growth, heart problems,Klinefelter
27、s syndrome 47 chromosomes, extra X chromosomes (XXY) Boys affected low testosterone levels, underdeveloped muscles, sparse facial hair,Having an extra set of chromosomes is fatal in animals, but in plants it makes them larger and hardier.,Hardier,Gene or Point Mutation most common and least drastic
28、only one gene is altered,Examples:Recessive gene mutations: Sickle cell anemia red blood cells are sickle shaped instead of round and cannot carry enough oxygen to the body tissues heterozygous condition protects people from malaria,Cystic fibrosis mucous builds up in the lungs,Tay-Sachs Disease det
29、erioration of the nervous system early death,Mutated genes produce enzymes that are less effective than normal at breaking down fatty cell products known as gangliosides. As a result, gangliosides build up in the lysosomes and overload cells. Their buildup ultimately causes damage to nerve cells.,Ph
30、enylketonuria (PKU) an amino acid common in milk cannot be broken down and as it builds up it causes mental retardation newborns are tested for this,Dominant gene mutations: Huntingtons disease gradual deterioration of brain tissue, shows up in middle age and is fatalDwarfism variety of skeletal abnormalities,Detecting Genetic Disorders picture of an individuals chromosomes karyotype amniotic fluid surrounding the embryo is removed for analysis amniocentesis,Female with Downs syndrome,
