What DNA is telling us!

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Ruth Heath
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1 Genetics What DNA is telling us!

2 Learning Goals The student will investigate and understand common mechanisms of inheritance and protein synthesis. Key concepts include: 1. prediction of inheritance of traits based on the Mendelian laws of heredity; 2. genetic variation (mutation, recombination, deletions, additions to DNA) 3. use of genetic information; and 4. exploration of the impact of DNA technologies.

3 vocabulary terms INHERITANCE or HEREDITY- The genetic transmission of characteristics ti from parent to offspring

4 vocabulary terms GENETICS The study of the transmission of heredity

5 vocabulary terms HOMOLOGOUS CHROMOSOMES A pair of matching chromosomes in an organism- with one inherited from Mom & one from Dad.

6 vocabulary terms AUTOSOME- Any chromosome that is NOT a sex chromosome. In humans there are 22 pairs

7 vocabulary terms GENOTYPE- the genes present in the DNA of an organism. There are always 2 letters in the genotype because (as a result of sexual reproduction) 1 gene from MOM + 1 gene from DAD = 2 genes (2 letters) for offspring

8 vocabulary terms Now, it turns out there are 3 possible GENOTYPES: 1. 2 capital letters (like "TT") 2. 1 of each ("Tt") 3. 2 lowercase letters ("tt") ). Since WE LOVE VOCABULARY, each possible combo has a term for it.

9 vocabulary terms HOMOZYGOUS: GENOTYPE has 2 capital or 2 lowercase letters (ex: TT or tt) ("homo" means "the same") Sometimes the term "PUREBRED" is used instead of homozygous.

10 vocabulary terms HETEROZYGOUS: GENOTYPE has 1 capital letter & 1 lowercase letter (ex: Tt) ("hetero" means "other") A heterozygous genotype can also be referred to as HYBRID and sometimes the organism is called a CARRIER

11 vocabulary terms Let's Summarize: Genotype- genes present in an organism (usually abbreviated as 2 letters) TT = homozygous = purebred Tt = heterozygous = hybrid tt = homozygous = purebred

12 vocabulary terms PHENOTYPE- how the trait physically shows-up in the organism; it is the observable traits present in an organism What the organism LOOKS like Examples of phenotypes: blue eyes Examples of phenotypes: blue eyes, brown fur, striped fruit, yellow flowers

13 vocabulary terms POLYGENIC INHERITANCE- a trait controlled by two or more genes that may be on the same or on different chromosomes Examples of polygenic inheritance: eye color, skin color, and height

14 vocabulary terms ALLELES- alternative forms of the same gene. Alleles for a trait are located at corresponding positions on homologous chromosomes called loci. ALLELES A b C d e Chromosome from MOM A B c d E Chromosome from DAD

15 Chromosome from DAD: P (P) Chromosome from MOM: p (p)

16 vocabulary terms When 1 allele masks (hides) the effect of another, that allele is called DOMINANT and the hidden allele is called RECESSIVE.

17 vocabulary terms Dominant alleles are represented by a CAPITAL letter Recessive alleles are represented by a LOWERCASE letter

18 What are Dominant Genes? Dominant Genes = one gene overshadows the other Angus Cattle: black is dominant, red is not Dominant: BB or Bb Recessive: bb ONLY

19 What are Dominant Genes? Hereford: white face is dominant Dominant: WW or Ww Recessive: ww ONLY

20 What are Dominant Genes? Hampshire Hog: white belt is dominant Dominant: WW or Ww Recessive: ww ONLY

21 What are Recessive Genes? The gene that is overshadowed by a dominant gene Recessive genes can only express themselves if BOTH genes are recessive

22 What are Recessive Genes? Horned is recessive to polled. Dominant: PP or Pp Recessive: pp ONLY

23 What are Recessive Genes? Black wool is recessive to white wool. Dominant: WW or Ww Recessive: ww ONLY

24 What are Recessive Genes? Some types of dwarfism are recessive to average size. Dominant: DD or Dd Recessive: dd ONLY

25 What are Recessive Genes? Albinism (Albino) is recessive to pigmented.

26 What makes an organism the way that t it is? NATURE vs. NURTURE Traits that are expressed through genes can be inherited. Characteristics that are acquired through environmental influences, such as injuries or practiced skills, cannot be inherited.

27 Gregor Mendel ( ) 1884) Austrian monk Called the Father of Genetics" for his study of the inheritance of 7 traits in pea plants.

Gregor Mendel (1822-1884) 1884) The traits that Mendel

EX.: Stem Height - tall vs. short Pod Shape -round vs.

28 Gregor Mendel ( ) 1884) The traits that Mendel chose to study were easily observable in 2 distinct forms. EX.: Stem Height - tall vs. short Pod Shape -round vs. wrinkled Flower Color white vs. purple Seed Color green vs. yellow

29 Gregor Mendel ( ) 1884) The significance of Mendel's work was not recognized until the turn of the 20 th century Its rediscovery prompted the foundation of genetics.

30 Genotype Symbol TT Tt tt Genotype Vocabulary homozygous DOMINANT or purebred tall heterozygous or hybrid homozygous RECESSIVE or purebred short Phenotype tall tall short

31 Geneticists apply mathematical principles of probability to Mendel s laws of heredity in order to predict the results of simple genetic crosses

32 Mendel s laws of heredity are based on his mathematical analysis of observations of patterns of the inheritance of traits. The laws of probability govern simple genetic recombinations. To see this we use a Punnett Square

33 Punnett Squares To complete a Punnett square, we use a letter to represent each allele. We represent the dominant allele with a capital letter, and the recessive allele is given the same letter but in lowercase. If there is only ONE TRAIT to look at the probability of occuring this is a MONOHYBRID CROSS

34 Punnett Squares For the pea plant flowers: dominant: purple color = P recessive: white color = p. If both parents( P generation) are purebred, then the purple colored parent must be PP and the white colored parent must be pp.

35 How can we predict these results? We complete the possible combinations. P P p Pp Pp p Pp Pp Homozygousdominant Homozygous- Homozygous recessive

36 These results show that all the F 1 (1 st filial l generation) offspring are all purple colored hybrids. P P p Pp Pp p Pp Pp 100% purple offspring

37 We can use another Punnett square to predict the F 2 (2 nd filial generation) offspring. Heterozygous - hybrid Heterozygous - hybrid P p P PP Pp p Pp p p

38 The results are always mathematically ti the same, a 3:1 ratio with 75% purple & 25% white offspring Heterozygous - hybrid Heterozygous - hybrid P p P PP Pp p Pp p p Phenotypic ratio 3:1 Phenotypic ratio 3:1 Genotypic ratio 1:2:1

Genotypic ratio 121 1:2:1 cross Heterozygous - hybrid P p P p PP

39 A genotype ratio is possible gene Heterozygous - hybrid combination results Phenotypic ratio 3:1 you expect from a Genotypic ratio 121 1:2:1 cross Heterozygous - hybrid P p P p PP Pp A phenotype ratio is possible Pp appearance p p results you expect from a cross.

40 Dihybrid cross You now are determining the probability for TWO TRAITS. The Punnnett square NOW has 16 possible combinations so all the ratios are out of 16. To determine the possible gamete combinations you have to FOIL, but I have a short cut, too.

41 Dihybrid cross

42 Dihybrid cross

43 Dihybrid cross

44 Dihybrid cross

45 Dihybrid cross dihybrid cross practice

46 Dihybrid cross

47 Incomplete dominance When both alleles are present, they are both expressed in the phenotype. The hybrid is a blend of both alleles. When expressing incomplete dominant alleles, both alleles are may represented by different capitalized letters. YOU NOW HAVE 3 possible phenotypes!!!!

48 Incomplete dominance : F 1 generation Homozygous R R W RW RW Homozygous W R W R W

49 Incomplete dominance : F 1 generation 100% pink offspring R R W RW RW W R W R W

50 Incomplete dominance : F 2 generation Heterozygous R W R R R RW Heterozygous W R W W W

51 Incomplete dominance : F 2 generation A 1:2:1 ratio with Heterozygous 25% red, 50% pink & 25% white offspring R W R R R RW Heterozygous W R W W W

52 codominance When both different alleles are present, they are both expressed in the phenotype. The hybrid EXPRESSES both alleles so both are clearly seen. When expressing codominant alleles, alleles are may represented by different capitalized letters.

53 Codominance: in humans Blood Type: phenotypic ratio 1:1:1:1 1 type A I A I O 1 type B I B I A I B I B I 1 type AB 1 type O I O I A I O I O I I O I O

54 Codominance: in humans Blood Type: A & B are equally strong. O is recessive I A I O or I A I A is Type A I B I O or I B I B is Type B I AI B is Type AB I O I O is type O

55 Codominance: in humans

56 Codominance: in humans

57 codominance EX.

58 codominance EX.

59 Sex-Linked Traits Boy or Girl? The Y Chromosome Decides X chromosome Y chromosome

61 What are Sex Linked Traits? In 1910, Thomas Morgan discovered traits linked to sex chromosomes in fruit flies. Some genes are attached to the X and Y chromosomes EXAMPLE: In humans, colorblindness and hemophilia are found on the X chromosomes

62 What are Sex Linked Traits? Since it is usually on the X chromosomes, in Men, traits expressed anytime present In Women, must have two genes to show trait Sons can ONLY inherit sex-linked traits from their mothers since dads can only give the Y chromosome to their sons

63 Punnett Square: What sex will the offspring be? X Y X XX XY X XX XY 50% chance of a male or a female 50% chance of a male or a female child.

64 Colorblindness is carried by the mother Phenotype: X Y 25% colorblind l males X B XXB X BY 25% carrier females X XX XY 25% normal males 25% noncarrier females

65 If Dad is colorblind, will you be colorblind? X B Y X XX X Y B Phenotype: 0% colorblind males 100% carrier females X XX B XY

66 What if Mom is X colorblind? Y X XX XY Phenotype: B B B 100% carrier females 100% colorblind X XX XY B B B males

67 Genetic Diversity The sorting and recombination of genes in sexual reproduction results in a great variety of gene combinations in the offspring of any 2 parents. Do you look EXACTLY like your brothers & sisters?

68 Genetic Diversity Genetically diverse populations p are more likely to survive changing environments. Greater variation within the species makes a population better suited to adaptation to changes in the environment.

69 Leopard Genetic Diversity populations around the world are in danger because of inbreeding.

70 There is Genetic Diversity very little genetic variation between any 2 individuals.

71 This makes them VERY susceptible to disease & will likely Genetic Diversity lead to their extinction.

72 Genetic Diversity Recombination and mutation provide for genetic diversity. Inserting, deleting, or substituting DNA bases can alter genes. An altered gene in a sex cell may be passed on to every cell that develops from it, and MAY cause an altered phenotype.

73 Crossing-over recombination the physical exchange of chromosomal material between chromatids of homologous chromosomes during MEIOSIS. Result: Generation of new combinations of genes (alleles).

74 recombination Occurs in prophase I of meiosis I A A a a B C C B b c b c Generates diversity E F D D E F f e d d e f Creates chromosomes with new combinations of alleles l for genes A to F.

75 recombination Letters denote genes Case denotes alleles A B C C c a b c E D D E e d d e F F f f

76 recombination Alleles have crossed over to produce new gene combinations A B C C b a A B c a b c E D D E e d d e F F f f

78 Chromosomal Errors Sometimes entire chromosomes can be added or deleted by mistakes during anaphase, resulting in a genetic disorder d such as Trisomy 21 (Down syndrome) or Monosomy X (Turner s syndrome).

79 Chromosomal Errors NONDISJUNCTION: the failure of chromosomes to separate properly p in meiosis. Gametes with extra or too few chromosomes result. Can cause diseases such as Down s Syndrome, Turner s and Klinfelter s s.

80 Chromosomal Errors POLYPLOIDY: organisms with entire extra sets of chromosomes Results in the death of the fetus in animals Often occurs in plants and causes the fruits and flowers to be larger. EX.: bananas, lilies

81 A Karyotype is an Arranged Picture of Chromosomes At Their Most Condensed State Note that almost all chromosomes come in homologous pairs. Boy or girl?

82 Karyotype Boy or Girl?

83 Normal or abnormal Karyotype? male or female?

84 Pedigrees Pedigree charts show a record of the family of an individual. It can be used to study the transmission of a hereditary condition. It is particularly useful when there are large families and a good family record over several generations.

85 Autosomal Dominant

88 Genetics Quiz 5 all responses in complete sentences 1. Using the proper vocabulary, describe a single gene cross between a homozygous dominant and a homozygous recessive organism for one trait. 2. Describe the survival benefits of an organism doing meiosis. 3. What are the reasons to study genetics? 4. What is a karyotype and what does it show? 5. What exactly is a Punnett square used for?

89 Ethical & Moral Concerns The potential for identifying and altering genomes raises practical and ethical questions.

90 Ethical & Moral Concerns Cloning is another morally charged issue facing us today. Cloning is the production of genetically identical cells and/or organisms.

91 Ethical & Moral Concerns Dolly was famous all over the world because of the way she was born, in She was the world's first cloned mammal. Dolly the sheep

92 Ethical & Moral Concerns Other cloned animals

93 Ethical & Moral Concerns Transgenic organisms also known as Genetically modified organisms These are organisms that have DNA from a different source or RECOMBINANT DNA Much of our food is transgenic or GMOs genetically modified d organisms, like corn, soybeans, mangos and strawberries

94 Ethical & Moral Concerns

95 Genetics in the News Human Genome Project: a 1986 DOE and NIH project to identify and map the approximately 20,000 25, genes of the human genome completed in 2003

96 Genetics in the News Medical or Criminal Forensics- because every organism has its own unique DNA DNA fingerprinting or profiling is done where the test sample is matched with actual DNA of humans and other organisms This has been used as evidence in criminal cases and to determine relatedness between individuals

98 DNA Fingerprinting Restriction enzymes cut unknown DNA into small pieces at certain points The pieces are placed in wells at the top of a gel and electricity i is run through hit A standard with known DNA sizes is placed in at least one well to compare The different sized fragments (measured in number of base pairs) stop at certain points and the unknown is compared with the known samples

100 Genetics in the News PCR- polymerase chain reaction A process that allows biotechnologists to make many copies of a small sample DNA in research or for identification in criminal cases when they use DNA fingerprinting. p g g p y y g an/pcr_anime.html

101 Did you read all sections and understand all parts? if not come and talk to ME ASAP

Genetics. Biology. vocabulary terms

Genetics. Biology. vocabulary terms Genetics Biology vocabulary terms INHERITANCE or HEREDITY- The genetic transmission of characteristics from parent to offspring, such as hair, eye, and skin color. 1 vocabulary terms HOMOLOGOUS CHROMOSOME-