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1 2 • • • • 1820 - French orphan Martin Fugate settled in Troublesome Creek Married Elizabeth Smith - 7 children of whom 4 reported to be ‘blue’ Many consanguineous marriages (normally cousin - cousin) One of their sons married an aunt 3 • • • • • 6 generations later Ben Stacy born (1975) Ben’s skin blue - no apparent cause (1998) lips and fingernails still blue when stressed What is the cause? Treatment? Madison Cawein (1960 ) proposed answers 4 5 1. Certain acquired characteristics, such as mechanical or mathematical skill, may be inherited. TRUE 2. Identical twins are always of the same sex. TRUE 6 3. Fraternal twins are more closely related to each other than to other children in a family. FALSE 4. The father determines the sex of a child. TRUE 7 3. Fraternal twins are more closely related to each other than to other children in a family. TRUE 4. The father determines the sex of a child. TRUE 8 5. Each parent contributes half of a child’s genetic make up. TRUE 6. Certain drugs or alcohol can cause birth defects in a fetus. TRUE 9 7. Colorblindness is more common in males than in females. TRUE 8. A person may transmit characteristics to offspring, which he, himself does not show. TRUE 10 9. Identical twins are more closely related than fraternal twins. TRUE 10. Certain inherited traits may be altered by the stars, moon, or planets early in development FALSE 11 11. Humans 12. have 23 chromosomes. FALSE The tendency to produce twins may run in families. TRUE 12 13. A craving for food such as strawberries may cause a birthmark on an unborn child. FALSE 14. Many of a person’s inherited traits are not apparent. TRUE 13 13. The parent with the stronger “will-power” will contribute more to a child’s inheritance than the other parent. FALSE 14. If a person loses a limb in an accident, it is likely that he or she will have a child with a missing limb. FALSE 14 17. Gregor Mendel was a monk and is known as the “Father of Genetics” based on his experiments with pea plants. TRUE 18. Children born to older parents usually lack the vitality of those born to younger parents. FALSE 15 19. The total number of male births exceeds females births each year. TRUE 20. If a male mutt dog mates with a pedigree (show quality) female dog, all future litters of the pedigree will have some characteristics from the mutt male. FALSE 16 Trait - any characteristic that can be _____ passed from parent to offspring. _________ Heredity - passing traits from parent to offspring Genetics - study of heredity __________ 17 Alleles - two forms of a gene ________ (dominant and recessive) 18 Dominant - stronger of two genes ___________ expressed in the hybrid: represented by a capital letter (R). Recessive - gene that shows up less ___________ often in a cross; represented by a lowercase letter (r). 19 Genotype - gene combination for a ___________ trait (ex. RR, Rr, rr) Phenotype - the physical feature ____________ resulting from ta genotype (tall, short) 20 Homozygous genotype - gene _________________________ combination involving two dominant or two recessive genes (ex: RR or rr): also pure called _______. Heterozygous genotype - gene _________________________ combination of one dominant and one recessive allele (ex: Rr); also called ________. hybrid 21 Monohybrid Cross - cross involving a __________________ single trait Dihybrid Cross - cross involving two traits _______________ 22 Punnett Square ________________ - used to solve genetics problems. (based on probability) 23 Heredity __________ = the passing of traits parents to __________. offspring from __________ › Transmitted by means › of information stored DNA › in molecules of _______. 24 heredity Genetics = scientific study of __________ ___________ Based on knowledge that traits are transmitted by chromosomes ________________. 25 Fundamentals of Genetics Our chromosomes ______________ are made up of genes which are pieces of our ________, DNA that code for certain ______. ______ traits › For example, both of our chromosomes might contain the genes for hair texture or height. 26 Humans have ____chromosomes 46 in their somatic (body) cells. 23 chromosomes ____ from your mom 23 from your and ____ dad. 27 Since an organism receives genes from _______ both parents it is not exactly like either parent but like each parent _______ in some ways. 28 Environment ____________ = all the outside forces that act on an organism. › Affects the development, later life, and the expression of heredity traits of an organism. 29 WHAT MAKES YOU WHO YOU ARE TODAY? Heredity & Environment are the › _______________________ two great influences, acting together all through your life. 30 Genetic messages determine what organisms ______ may become. The interaction of messages and the environment determines what do organisms ______ become. 31 Organisms inherit genetic message ____________________, not traits! Traits develop when genetic messages interact with the environment. 32 Gregor Mendel “Father of Genetics” ________________________ - Austrian monk Between 1856 and 1963 his research with garden peas ________________ led to the discovery of heredity. Did a statistical study of traits in garden peas over an eight year period. 33 Garden peas were a good choice for experimentation because: cultivated quickly 1. They can be _______________________. 2. They display ___________________ in one of several traits two contrasting forms: height – tall/short seed color – yellow/green self-pollinating 1. They are normally ___________________ plants and are very easy to cross-pollinate. 34 Mendel used logical _______________ experimental methods and kept careful __________. records He used math principles of ______________ probability to interpret results 35 36 Mendel studied pea traits, each of which had a dominant and a alleles recessive form (_______). dominant (shows up most often) The ___________ gene or allele is represented with a ______________, capital letter and the recessive gene with a ___________ lower case of _______________ that same letter (ex. B, b). 37 Mendel’s traits included: a. seed shape – round (R)or wrinkled (r) b. seed color – yellow (Y) or green (y) c. pod shape – smooth (S) or wrinkled (s) d. pod color – green (G) or white (g) e. seed coat color – gray (G) or white (g) f. plant height – tall (T) or short (t) g. flower color – purple (P) or white (p) 38 Mendelian Genetics Overview The different forms or types of a alleles specific gene are called __________. › For example, a GENE for eye color might allele allele a brown _________, have a blue _________, and a green _________. allele › In plants, a gene for flower color might have a purple allele and a white allele. 39 Mendelian Genetics Overview Because our chromosomes are in _____ two sets, we have two copies of each gene, ______ one from our _____ mom and one from our _____. dad _____ same › If both of your parents gave us the ______ type of gene – the same allele – then ______ we are . . . 40 Mendelian Genetics Overview HOMOZYGOUS or pure (on both sets of our chromosomes, on both sets of genes; the allele is the ______). same 41 Mendelian Genetics Overview If one parent gave us one type of gene and the other parent gave us a different type, then we are . . . › HETEROZYGOUS or hybrid – we have two different alleles. 42 Mendelian Genetics Overview With MENDELIAN traits (the type of traits that Mendel studied), blend heterozygotes DO NOT have a _______ of the two alleles. › Instead, one type of allele dominates – We show the characteristics of this allele only – it is the ____________ DOMINANT trait. 43 Mendelian Genetics Overview The other version of the trait is still there on half of our chromosomes (so we might still pass it on to our children, depending on meiosis) BUT it DOES NOT affect us right now – it is the RECESSIVE trait. ____________ 44 45 Mendelian Genetics Overview Whether we are heterozygous, homozygous with the dominant trait, or homozygous with the recessive trait GENOTYPE (type of it is called our ___________ genes that we have). physically Which trait we _____________ show is PHENOTYPE (the type of allele our _____________ that is expressed). 46 Mendelian Genetics Overview dominant allele example, if the __________________ of the eye color gene is brown and the __________________ of the eye recessive allele color gene is blue, then the person could have the following possibilities: For 47 Mendelian Genetics Overview Two blue alleles, bb (one from ______, mom dad one from _____). homozygous › Genotype would be ______________ recessive ___________ blue eyes Phenotype would be ___________. 48 Mendelian Genetics Overview Two brown alleles, BB (one from mom, one from dad). homozygous › Genotype would be ______________ dominant ____________ brown eyes Phenotype would be _____________. 49 Mendelian Genetics Overview Two brown alleles, Bb (one from mom, one from dad). heterozygous › Genotype would be ______________ brown eyes Phenotype would be _____________. 50 Eye color is actually more complicated than that. 51 Mendelian Genetics Overview When only _____ one trait is being studied in a genetic cross it is called a _____________________. monohybrid cross › When parent organisms, called the P generation are crossed, the ________________, resulting offspring are the first filial or F1 generation _________________. › When organisms of the F1 generation are crossed, their offspring make up the F2 generation second filial or, _________________. 52 53 Mendel’s Experiments Mendel produced pure strains by allowing plants to self-pollinate for several generations. These strains were called the __________ parental generation or P1 strain. 54 Mendel’s Experiments Mendel cross-pollinated two strains and tracked each trait through two generations. (ex. TT x tt) Trait = plant height › ________ Alleles = T (tall), t (short) › ________ 55 Mendel’s Experiments TT x tt P1 cross = __________ T T t Tt Tt t Tt Tt F1 Genotypic ratio = 100% __________ F1 Phenotypic ratio = 100% __________ 56 Mendel’s Experiments T T t Tt Tt t Tt Tt The offspring of this cross were all _________ hybrids showing ONLY the dominant trait __________________ & were called the First Filial or F1 __________________ generation. 57 Mendel’s Experiments Mendel then crossed two of his F1 planst and tracked their traits; know as F1 cross ___________. Trait = plant height › ________ Alleles = T (tall), t (short) › ________ 58 Mendel’s Experiments Tt x Tt F1 cross = __________ T t T Tt T t Tt tt T F2 Genotypic ratio = ___________________ 1 T T: 2 T t: 1 F2 Phenotypic t t ratio = ___________________ 3 tall: 1 short 59 Mendel’s Experiments When 2 hybrids were crossed, 75% (3/4) of the offspring showed the dominant trait and 25% (1/4) showed the recessive trait. Two hybrids ALWAYS create a 3 (dominant trait:1(recessive trait) ratio ______________________________________. The offspring of this cross were called the F2 generation __________________. 60 Results of Mendel’s Experiments factors and genes are ___________________ responsible for all heritable characteristics. Phenotype is based on ___________. genotype ____________ Inheritable 61 Results of Mendel’s Experiments Each trait ______________ is based on two genes _____________, one from the mother and the other from the father. True-breeding individuals are homozygous (both alleles) are the same. Formulated three laws of heredity in the early 1860’s. 62 Mendel’s 3 Laws of Heredity Law of Dominance ____________________ states that when different alleles for a characteristic are inherited (heterozygous), the trait of only one (the dominant one) will be expressed. The recessive trait’s phenotype only appears in truebreeding (homozygous) individuals. 63 Law of Dominance 64 Mendel’s 3 Laws of Heredity Law of Segregation ____________________ states that each genetic trait is produced by a pair of alleles which separate (segregate) during reproduction. Explains the disappearance of a specific trait in the F1 generation and its reappearance in the F2 generation. 65 Mendel’s 3 Laws of Heredity Law of Independent Assortment ________________________________ states that each factor (gene) is distributed (assorted) randomly and independently of one another in the formation of gametes (egg or sperm). __________ 66 Law of Independent Assortment Explains that different traits are inherited independently if on different ________________, chromosomes. Ex: wrinkled seeds do not have to be yellow. They can be green. 67 Law of Independent Assortment Ex. A gamete with RrYy › R and r – separate into different gametes. › Y and y – separate into different gamets. › They can then recombine 4 ways to form gametes: RY Ry rY ry 68 Inheritance of Human Traits: Dominant/Recessive Dark hair / Light hair Non-red hair / Red hair Curly hair / Straight hair Widows peak / Straight or curved hairline Body hair / Scant body hair Freckles / Normal Dimples / No dimples 69 Inheritance of Human Traits: Dominant/Recessive Brown eyes / Gray or blue eyes Normal eyesight / Nearsighted Large Eyes / Small eyes Long eyelashes / Short eyelashes Broad nostrils / Narrow nostrils Roman nose / Straight nose 70 Inheritance of Human Traits: Dominant/Recessive Large nose / Small nose Free ear lobe / Attached ear lobe Web fingers / Normal fingers Bent little finger / Parallel little finger Left over right thumb / Right over left thumb 71 Inheritance of Human Traits: Dominant/Recessive A or B blood / O blood Rh+ blood / Rh- blood Normal clotting / Hemophilia Normal / Allergy Tongue roller / Non-roller 72 73 Fraternal vs. Identical Twins _______________ Identical twins develop from a _______ single fertilized egg that splits shortly after fertilization. › Since they developed from the ______ same egg they have exactly the same ___________________. genetic makeup 74 Fraternal vs. Identical Twins _______________ Fraternal twins two develop from ____ eggs that are two fertilized by _____ sperms. › They are completely different people. ___________ 75 Fraternal vs. Identical Twins By studying identical twins, geneticists genes seem to have a learned that _______ environment greater influence than the ________________ on such traits as height, weight, blood pressure, speech patterns, and gestures. 76 Fraternal vs. Identical Twins They have also discovered that _______ genes medical problems play a role in some _________ once thought to be caused only by environmental factors. › For instance, genes can cause a susceptibility diseases such as diabetes and certain to __________ types of cancer. 77 Inherited Diseases: infectious diseases and ___________________ CANNOT be _________. inherited Certain chemical conditions of the cells and body tissues important in resistance against infections may be inherited. ___________ Infections 78 Inherited Diseases: Diseases resulting from abnormal structure more likely or function of body organs are ______ to be hereditary. 79 Inherited Diseases: Some diseases that may be associated with genes are: › Diabetes › Respiratory allergies › Asthma › Nearsightedness › Farsightedness › Night blindness 80 81 Inherited Diseases: Sex chromosomes ___________________ determine the sex of an individual. XX produce a › The X chromosomes (___) female ________. › An X chromosome paired with a Y chromosome (___) male XY produces a ______. 82 Sex Determination: Since only a male can produce a gamete father bearing a Y chromosome, the ________ sex if the child. determines the _____ NOTE: The X chromosome contains additional genetic information that the Y chromosome does not have, therefore a male child actually inherits more genetic information from his ________ mother than his father (a very tiny amount). 83 Sex-Linked Traits: Traits that occur ______ more frequently in one sex than another › Males – color blindness and hemophilia 84 Sex-Linked Traits: Occurs because other genes besides the alleles for sex are also located on the sex chromosomes. They are ___________ recessive to the normal condition and the Y chromosomes appear to lack genes for these traits. These traits generally do not show up in females _________. 85 86 87 88 89 90 91 92 Punnett Squares: Use Punnett Squares to solve genetic problems! 93 Punnett Squares: 94 Practice Problems – MONOHYBRIDS (one trait) Black coat color in guinea pigs is dominant over white coat color. Using a Punnett square, show the results of crossing a hybrid black with pure white. Then show the results of crossing a hybrid black and a hybrid black. 95 Practice Problems – MONOHYBRIDS (one trait) Black Trait – B (dominant) White Trait – b (recessive) Hybrid Pure black – Bb white - bb 96 Mendel’s Experiments P1 cross = b B Bb b Bb b bb bb Bb x bb Genotypes of F1 offspring = 2 Bb : 2 bb Phenotypes of F1 offspring = 2 black : 2 white (50% black : 50% white) 97 Practice Problems – MONOHYBRIDS (one trait) Black B (dominant) Trait – _______________ b (recessive) White Trait – _______________ Hybrid Bb black – __________ Hybrid Bb black - __________ 98 Practice Problems – MONOHYBRIDS (one trait) P1 cross = __________ Bb x Bb B b Genotypes of F1 offspring = b Bb bb b Bb bb 1 BB:2 Bb:1 bb _____________________ _ Phenotypes of F1 offspring = 3 black : 1 white _____________________ 99 Now You Try Some: 1) In pigs, the white color (W) is dominant; the black color (w) is recessive. Using Punnett squares, show the expected results of the following crosses. 100 1a) A pure (homozygous) white pig is mated with a black pig. P1 cross = _____________ WW x ww W W w Ww Ww w Ww Ww Genotypes of F1 offspring = 100% Ww _____________________ _ Phenotypes of F1 offspring = 100% white _____________________ 101 1b) Show a cross between two of the F1 offspring from number 1a. Determine the genotypes and phenotypes of the offspring in the F2 generations. P1 cross = _____________ Ww x Ww W w W WW Ww w Ww ww Genotypes of F2 offspring = 1_____________________ WW:2Ww:1ww _ Phenotypes of F2 offspring = 3 white : 1 black _____________________ 102 Dihybrids (two traits) 103 Dihybrids (two traits) o Because each parent and offspring are two traits, each one should have using _____ 4 alleles, __ 2 for each _______. trait __ o Each gamete produced by the P1 generations will contain 2 alleles, on for each trait. 104 Dihybrid: Eye Color 105 DIHYBRIDS (two traits) Example: A plant that is heterozygous for being tall and having green seeds is crossed with a homozygous yellow and short. › Traits = seed color and plant height › Alleles G = green T = tall g = yellow t = short TtGg x ttgg Cross: ______________ 106 DIHYBRIDS (two traits) Determine the gametes produced by each parent by using the FOIL method. › TtGg produces four different gametes: _____ TG _____ Tg tG _____ _____ tg ttgg produces only one gamete: tg ______ 107 TG tg tg tg Phenotypes: Tg tG tg 4 tall/green seeds Ttgg ttGg ttgg TtGg 4 tall/yellow seeds 4 short/green seeds ttGg ttgg TtGg Ttgg 4 short/yellow seeds Ttgg ttGg ttgg TtGg Genotypes: Ttgg 4 ttGg: ttGg 4 ttgg ttgg tg4 TtGg TtGg : 4 Ttgg: 108 Practice DIHYBRIDS (two traits) In a dihybrid cross, when two traits are considered, the number of possible combinations of the offspring incraseas. Suppose that black hair (B) is dominant over blonde hair (b) and brown eyes (E) are dominant over blue (e). What percent of offspring could be expected to have blond hair and blue eyes if: 109 Practice DIHYBRIDS (two traits) The father has black hair (heterozygous) and brown eyes (heterozygous) and the mother has blonde hair and blue eyes. BbEe Genotype of father = _______ bbee Genotype of mother = _______ Complete the cross using the Punnett square. Determine the percent of offspring that will have blonde hair and blue eyes. 110 BE be be BbEe Be bE be Bbee bbEe 25% (4/16) bbee blonde hair and blue eyes be be 111 Practice DIHYBRIDS (two traits) Both parents have black hair (heterozygous) and brown eyes (heterozygous) BbEe Genotype of father = _______ BbEe Genotype of mother = _______ Complete the cross using the Punnett square. Determine the percent of offspring that will have blonde hair and blue eyes. 112 bE be BBEe BbEE BBEE 6.25% (1/16) BbEe BE BE Be Be blonde hair and blue eyes BBee BbEe Bbee BBEe bE BbEE BbEE bbEE bbEe be BbEe Bbee bbEe bbee 113