an austrian monk who worked with pea plants provided the foundation for modern genetics scientists...

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Page 1: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood
Page 2: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

• An Austrian monk who worked with pea plants

• Provided the foundation for modern genetics

• Scientists understood that traits were inherited before they understood the mechanics of inheritance

Page 3: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Traits

• Traits are distinguishing characteristics that are inherited.

Page 4: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Genetics• Genetics is the study of biological inheritance patterns and variations in organisms.

Page 5: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Mendel chose pea plants because they were quick to reproduce and he could control how they mated (model organisms)• What is a model organism?

Page 6: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Purebred pea plants

Known to have one trait or another, no in betweens!!

Page 7: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Pea plant traits

He chose 7 traits to follow due to their “either-or” characteristics; there were no intermediate features•Pea shape, pea color, pod shape, pod color, plant height, flower color, and flower position

Page 8: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood
Page 9: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

In genetics, the mating of two organisms is called a cross• The parents in a cross are called the P generation

(parental generation)• The offspring of that generation are called the F1

(first filial generation) When Mendel crossed purple flowered pea plants

with white flowered pea plants, the F1 was all purple When 2 offspring from the F1 were crossed, the

resulting plants were purple and white (75% purple and 25% white)• 3:1 ratio

Page 10: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood
Page 11: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

3 main conclusions from his work (1) Demonstrated that traits are inherited

as discrete units• Explained why individual traits in the peas did

not blend or dilute over successive generations

Page 12: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Law of segregation (2 & 3) Collectively called the “Law of

Segregation”• Organisms inherit 2 copies of each gene.

Where do those 2 copies come from?• Organisms donate only one copy of each gene

in their gametes.

Page 13: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood
Page 14: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

A gene is a heritable factor that has a specific characteristic.

Each gene has a specific locus, or location on a pair of homologs.

Page 15: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Alleles Alleles are alternative forms of a gene

• Such as round or wrinkled peas, yellow or green peas, or purple or white flowers

Page 16: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

2 alleles for each gene•Homozygous – two of the same alleles

•Heterozygous – two different alleles

Page 17: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Dominant allele – the allele that is expressed; usually represented by a capital letter• The letter “B” represents brown eyes BB or Bb• Homozygous dominant or heterozygous

Recessive allele – the allele that is only expressed if the dominant allele is absent; usually represented by a lowercase letter• The letter “b” represents blue eyes bb• Homozygous recessive

Are dominant alleles “better” or “stronger” than recessive alleles? Why or why not?

Page 18: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood
Page 19: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

The genome is all of the genetic material in an organism

In genetics, we often only focus on a single trait or a set of traits

1. Genotype 2. Phenotype

Page 20: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

GENOTYPE

The genotype refers to the genetic makeup of a set of genes (what you don't see)

Genes that code for flower color, such as PP or Pp

Page 21: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

PHENOTYPE

The phenotype refers to the physical characteristics/traits of the individual organism ( what you see)

Purple flowers

Page 22: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Because some alleles are dominant over others, two genotypes could produce the dominant phenotype•Brown hair HH or Hh

In order to express the recessive phenotype, the individual must also have the recessive genotype•Blonde hair hh

There are many factors that play a part in making one allele dominant over another

Page 23: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood
Page 24: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Punnett Square – a grid system for predicting the possible genotypes that result from a cross

Deals with probability• The likelihood that a

particular event will occur The alleles from the

gametes of both parents are placed on the axes outside the grid while the possible genotypes of the offspring are inside the grid

Because segregation and fertilization are random events, each combination of alleles is just as likely as the next

Page 25: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Crosses that examine the inheritance of only one specific trait

Flower color in peas: purple (P) is dominant to white (p)• Cross a purebred purple flower with a purebred

white flower. Determine the genotypes & phenotypes of the F1 offspring. What % is purple? What % is white?

• Cross 2 of the F1 offspring together. Determine the genotypes & phenotypes of the F2 offspring. What % is purple? What % is white? What is the genotypic ratio? What is the phenotypic ratio?

Page 26: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Still using flower color…• From the F2, cross a heterozygous flower with a

homozygous recessive flower. Determine the genotypes & phenotypes of the F3 offspring. What % is purple? What % is white? What is the phenotypic ratio? What is the genotypic ratio?

Testcross – a cross between an organism of unknown genotype with an organism of the recessive genotype; allows scientists to determine if the organism of unknown genotype is homozygous dominant or heterozygous

Page 27: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Crosses involving two different traits-what size will your grid be?

One trait does not affect the presence of another; known as the “Law of Independent Assortment”• Basically says that allele pairs separate

independently during meiosis and are, therefore, inherited separately

Flower color and plant height in peas; flower color is the same as before; tall plants (T) are dominant to dwarf plants (t)• Cross 2 organisms that are heterozygous for

both traits.

Page 28: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

FOIL TtPp x TtPp Do one parent at a time, and place all of the

genotypes on one side of your 16 square box. First letter of each trait = Outside letter of each trait = Inside letter of each trait= Last letter of each trait = Now do the second parent in the same

manner.•What is the probability that the plants will

be tall and purple?• tall and white?•Short and purple?•Short and white?

Page 29: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood
Page 30: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Practice Problems Dihybrid Cross – blue eyes and blonde

hair are recessive

Bbhh X bbHh

Probability of offspring with Blue eyes and blonde hair?

Brown eyes and brown hair?

Page 31: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

BIOLOGY

Patterns of Inheritance

Page 32: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Mendel’s Principles Mendel came up with certain principles; keep

these in mind with these new patterns of inheritance• Inheritance of biological characteristics is

determined by genes which are passed from parents to offspring

•Some form of a gene may be dominant or recessive•Each individual has 2 copies of a gene which will

segregate during gametogenesis (Law of Segregation)

•Alleles for different genes segregate independently from one another (Law of Independent Assortment)

Page 33: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Incomplete DominanceCases that result in one allele not being

completely dominant over another alleleThis means that the heterozygous phenotype is

somewhere between the two homozygous phenotypes

“Blending” of phenotypesSnapdragons exhibit incomplete

dominance with flower colorRed flowers are RRWhite flowers are WW

When a RR snapdragon is crossed with a WW snapdragon, the offspring are RWPink flowers are RW

Page 34: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood
Page 35: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Codominance Codominance - Cases in which both

alleles contribute to the phenotype of the organism•Neither allele is dominant over the other•So, both phenotypes are expressed

•RED x WHITERED AND WHITE

Page 36: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Multiple alleles Multiple alleles – Cases in which genes

have more than 2 alleles that code for a trait•More than 2 alleles exist in a population, NOT

in the individual Human blood types (ABO) are

codominant and have multiple alleles

Page 37: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

IAIA or IAi = Type A IAIB = Type ABIBIB or IBi = Type B ii = Type O

Page 38: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Practice Problem

A homozygous type B woman marries a heterozygous Type A man. Show the punnett square, genotypes & phenotypes

Page 39: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Sex linked disordersSex-linked genes are carried on the sex chromosomesMales- XY Females-XX

Most traits are on the X-chromosome, which means that the female has to get two copies of the gene to show a genetic disorder. Males only have to get one copy of the bad gene.

Some examples of sex linked genes are : baldness, colorblindness, hemophilia, Duchenne Muscular Dystrophy

Page 40: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Cross a white-eyed female fruit fly and red-eyed male (White eyes are X-linked, recessive)

Practice Problem

Page 41: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Red-green colorblindness

Page 42: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Polygenic Traits Many traits are characterized by the

interaction of several genes Human skin color is determined by the

interaction of 6 separate genes•Humans of the same race can have varying skin

tones due to the interactions of the genes coding for skin color

Human eye color is also determined by 3 separate genes•Brown > green > blue•Only determines the color of the eyes, not the

varying in eyes of the same color (dark brown eyes vs. light brown eyes)

Page 43: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Epistasis A type of polygenic trait

Certain alleles code for a trait, but other alleles on different genes can affect whether or not a phenotype is expressed

Albinism is epistatic One allele blocks the others in pigment production if it is

expressed Color of the coat in Labrador retrievers is a result

of epistasis Black coat color (B) is dominant to brown coat color (b) Yellow coat color (e) is the recessive epistatic gene;

meaning it will block out all other coat colors if it is present BBEE, BBEe, BbEE, & BbEe – black lab bbEE & bbEe – chocolate lab BBee, Bbee, & bbee – yellow lab

Page 44: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood
Page 45: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Practice Problems Incomplete Dominance In northeast Kansas there is a creature

known as a wildcat. It comes in three colors, blue, red, and purple. This trait is controlled by a single locus gene with incomplete dominance. A homozygous (BB) individual is blue, a homozygous (RR) individual is red, and a heterozygous (RB) individual is purple. What would be the genotypes and phenotypes of the offspring if a blue wildcat were crossed with a red one?

Page 46: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Practice Problems Codominance

•A cross between a black cat and a tan cat produces a tabby cat (black and tan fur)

•What percentage of cats will have tan fur if a black cat is crossed with a tabby cat?

•What percentage will have tabby fur if two tabby cats are crossed?

Page 47: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Practice Problems Blood Typing

A male who has AB blood marries a female with Type A blood. Their child has type B blood. What is the mom’s genotype? Use a Punnett Square to explain your answer.

A male has type B blood and a female has type AB, if their child has type A, what is the dad’s genotype?

Page 48: An Austrian monk who worked with pea plants Provided the foundation for modern genetics Scientists understood that traits were inherited before they understood

Practice Problems Sex-linked Traits

•A female with hemophilia mates with a normal male. Create a Punnett Square. What is the probability they will have a male with hemophilia? A female?

•A female carrier of hemophilia mates with a male with hemophilia. Create a Punnett Square. What is the probability they will have a male with hemophilia? A female?

• If a male is a hemophilic, which parent gave him the defective allele?