gregor mendel austrian monk studied at the university of vienna discovered the basic principles of...
TRANSCRIPT
![Page 1: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/1.jpg)
![Page 2: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/2.jpg)
GREGOR MENDEL
• Austrian monk• Studied at the University of Vienna• Discovered the basic principles of heredity• Worked with breeding garden peas
– Self pollinating– Perfect flowers– Artificially cross pollinated
![Page 3: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/3.jpg)
Mendel’s Pea Plants• True breeding – all
offspring same variety• Hybridization – crossing 2
contrasting true breeding varieties
• P generation – parental generation (true breeding)
• F1 – first filial (hybrids)
• F2 – second filial (from self pollinating F1s)
![Page 4: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/4.jpg)
Mendel tracked heritable characters for 3 generations
![Page 5: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/5.jpg)
MENDEL’S LAWS1. Alternative versions of genes (alleles) account
for variations in inherited characters.2. For each character, an organism inherits two
alleles, one from each parent.3. If the 2 alleles differ, then one, the dominant
allele is fully expressed in the organism’s appearance; the recessive allele has no noticeable effect on the organism’s appearance
4. The 2 alleles for each character segregate during gamete production.
![Page 6: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/6.jpg)
![Page 7: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/7.jpg)
![Page 8: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/8.jpg)
Law of Segregation
• Letters represent alleles (upper case for dominant alleles & lower case for recessive alleles)
• P generation – true breeding plants, matching alleles (PP or pp)
• Gametes contain only one allele
• Fusion of gametes → hybrid F1s
![Page 9: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/9.jpg)
• When hybrids produce gametes, the 2 alleles segregate
• Half the gametes receive the P allele and half receive the p allele
• Punnett squares show possible combinations of alleles in gametes
• Each square is a possible offspring
![Page 10: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/10.jpg)
VOCABULARY
![Page 11: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/11.jpg)
TEST CROSS
![Page 12: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/12.jpg)
DIHYBRID CROSSESGiven: T- tall R - round
t – dwarf r - wrinkled
![Page 13: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/13.jpg)
![Page 14: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/14.jpg)
![Page 15: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/15.jpg)
PROBABILITY LAWS
1. CHANCE HAS NO MEMORY
2. RULE OF MULTIPLICATION: the chance of 2 independent events occurring together is the product of their individual probabilities.
3. RULE OF ADDITION: the probability of an event that can occur in 2 or more different ways is the sum of the separate probabilities.
![Page 16: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/16.jpg)
PROBABILITY PRACTICE
1) If a coin is tossed 7 times and lands heads all seven times, what is the chance of getting heads again?
2) A couple has 3 girls; what is the chance that their fourth child will be another girl?
3) In a deck of 52 cards, what is the chance of drawing:
a) Any red card?b) Any ace?c) Any heart?
![Page 17: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/17.jpg)
PROBABILITY PRACTICE
1. From a normal deck of cards, what is the chance of drawing the Jack of Hearts?
2. When tossing 2 dice, what is the probability of getting a “6” up on both?
3. What is the probability of 2 parents, with genotypes AabbCc x AaBBCc, having a child with the genotype AaBbCc?
![Page 18: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/18.jpg)
AaBbRr x Aabbrr
• What fraction of the offspring will have the following genotypes?– aabbrr - AaBbRr - aaBbrr
• What fraction of the offspring will have at least two recessive phenotypes?
a) list all possible genotypes
b) calculate probabilities (rule of multiplication)
c) pool probabilities (rule of addition)
![Page 19: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/19.jpg)
AaBbRr x Aabbrr
![Page 20: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/20.jpg)
Predict the gametes
• Formula 2n (n = # of heterozygous pairs)
• AA → 20 →1 gamete type (A)
• Aa → 21 → 2 gametes (A or a)
• AABb → 21 →2 gametes (AB or Ab)
• AaBb → 22 → 4 gametes (AB, Ab, aB, ab)
• AaBbDd → 23 → 8 gametes
• AaBbDdFf → 24 →16 gametes
![Page 21: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/21.jpg)
AaBbDd AaBbDdFf
![Page 22: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/22.jpg)
Incomplete Dominance• Alleles for red and
white, neither is dominant.
• Hybrids are a blend of the two alleles and are phenotypically pink
• There is NO allele for pink, therefore NO true breeding pink flowering plants.
• Codominance: both alleles equally expressed. Human blood type, cow coloring
![Page 23: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/23.jpg)
MULTIPLE ALLELES
![Page 24: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/24.jpg)
EPISTASIS • Gene at one locus alters the phenotypic expression of a gene at a second locus
• Gene for fur color: (B) black (b) brown
• 2nd gene deposition of pigment: (C) color (c) white
![Page 25: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/25.jpg)
Polygenic Traits• Skin color and
height in humans• Additive effect of
2 or more genes on 1 phenotype
• Quantitative characters – variation along a continuum
• Dots represent “units” of darkness
![Page 26: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/26.jpg)
NATURE and NURTURE
The product of a genotype is a range of phenotypic possibilities over which there may be variation due to environmental influence. Norm of reaction
- Hydrangea flower color and pH (blue-pink)- Human blood typing: little range (genotype
mandates phenotype.- Human blood counts: vary with altitude,
fitness, infectious agentsNorms of reaction broadest for polygenic traits
like skin color. Multifactorial characters: both genetic & environmental influences.
![Page 27: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/27.jpg)
Mendelian Inheritance in Humans
• Recessive Disorders– Cystic fibrosis - PKU– Tay-Sachs disease– Sickle-cell disease
• Dominant Disorders– Achondroplasia -Polydactyly– Huntington’s disease
• Multifactorial Disorders
![Page 28: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/28.jpg)
SICKLE CELL DISEASE
• Pleiotrophy – one disorder, multiple effects
• Incomplete dominance
• Heterozygotes – sickle cell trait, advantage (resistant to malaria)
![Page 29: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/29.jpg)
PEDIGREES
![Page 30: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/30.jpg)
INHERITANCE PATTERN?
![Page 31: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/31.jpg)
FETAL TESTING
![Page 32: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/32.jpg)
THE CHROMOSOMAL
BASIS OFINHERITANCE
![Page 33: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/33.jpg)
The Chromosomal Basis of Mendel’s Laws
Segregation
R & r alleles Segregate
Only one long chromosomeIn each gamete
Fertilization recombines the R & r alleles
IndependentAssortment
Long and short chromosomes;Arranged in 2 equally likely ways
They assort independently
Fertilization 9:3:3:1 ratio
![Page 34: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/34.jpg)
THOMAS HUNT MORGAN
• Worked with Drosophila• Wild type – phenotype most common in
the wild. Red eyes, gray, normal wings• Mutant phenotypes – white eyes, ebony,
vestigial wings• Discovered sex linkage• Sex linked genes – on sex chromosomes
![Page 35: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/35.jpg)
Sex Linked Inheritance
• Sex linked genes: on the X or Y chromosome
• X & Y NOT homologous• X-linked genes: males
being XY have only one copy/allele, females XX have two copies/alleles
• X-Linked recessive – more common in males
• X-Linked dominant – more common in females
![Page 36: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/36.jpg)
SEX DETERMINATION
• Humans – sex determined by presence or absence of Y chromosome; XX-female; XY-male
• Fruit flies – # of X chromosomes; XX-female; XY-male; XXY-female
• Birds – females are heterogametic
![Page 37: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/37.jpg)
Transmission of Sex-Linked Recessive Traits
Father w/ trait Carrier passes Carrier w/ afflicted
transmits to all trait to ½ sons male; 50% of
daughters ½ daughters children afflicted
Sons afflicted
![Page 38: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/38.jpg)
![Page 39: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/39.jpg)
LINKAGE
• Law of Linear Order: genes on the same chromosome are linked and are inherited in a block.
• Drosophila – 2 linked genes; inherited together– body color (G gray, g ebony) – wing size (L long, l vestigial)
• Test cross by Morgan produced unexpected results
![Page 40: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/40.jpg)
![Page 41: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/41.jpg)
![Page 42: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/42.jpg)
CROSSING OVER
![Page 43: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/43.jpg)
![Page 44: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/44.jpg)
MAPPING
• Linkage map – genetic map based on recombination frequencies
• Map units – one map unit = 1% recombination frequency
• Cytological maps – locate genes with respect to chromosomal features like stained bands
![Page 45: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/45.jpg)
Recombination frequencies: used to construct genetic map
The probability of a crossover between 2 loci is proportional to the distance separating the loci
![Page 46: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/46.jpg)
![Page 47: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/47.jpg)
Sex linked Recessive Disorders in Humans
• Duchenne Muscular Dystrophy
• Hemophilia
• Red/Green Color blindness
![Page 48: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/48.jpg)
X Inactivation
![Page 49: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/49.jpg)
![Page 50: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/50.jpg)
NONDISJUNCTIONleads to aneuploidy (trisomy, monosomy, polyploidy)
![Page 51: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/51.jpg)
CHROMOSOMAL MUTATIONS
![Page 52: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/52.jpg)
Human Chromosomal Disorders
• Down Syndrome (Trisomy 21)
• Turner Syndrome (XO, monosomy X)
• Klinefelter syndrome (XXY)
• XYY, XXX
• Cri du chat (cry of the cat) deletion in #5
• CML (chronic myeloid leukemia) translocation of # 22
• Down Syndrome due to translocation of #21
![Page 53: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/53.jpg)
Genomic Imprinting• Prader-Willi Syndrome:
– Mental retardation, obesity, short stature, small hands & feet (father)
• Angelman Syndrome:– Spontaneous laughter, jerky
movements, other motor and mental symptoms (mother)
• Same cause – partial deletion of chromosome #15
• Genomic Imprinting – gene on one chromosome silenced
![Page 54: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/54.jpg)
![Page 55: GREGOR MENDEL Austrian monk Studied at the University of Vienna Discovered the basic principles of heredity Worked with breeding garden peas –Self pollinating](https://reader035.vdocuments.mx/reader035/viewer/2022062515/56649cda5503460f949a4240/html5/thumbnails/55.jpg)