chapter 10 - genetics. what is genetics? the study of heredity the study of heredity heredity:...
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Chapter 10 - Genetics
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What is Genetics?The study of heredity
Heredity: passing of traits from parent to offspring
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Study of GeneticsChildren inherit traitsNeed to study many
generations
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Review: GenesSection of DNA on
chromosomesPaired
1 from mom & 1 from dad
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Gregor Mendel (1857)“Father of
Genetics”Discovered patterns
of inheritance by breeding pea plants
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Mendel’s ExperimentsWhy pea plants?Easy to grow &
can be self pollinated Hypothesized that
“factors” carry information about traits
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Flower Anatomy
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Mendel’s Laws
Independent Assortment: traits are not inherited together
Segregation: Alleles separate when gametes are formed
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What We Know Now“Factors” are called genesDifferent forms of a gene
are called allelesRepresented by letters
Ex. flower color alleles P (purple) or p (white)
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AllelesCapital letter = dominant
allele Ex. P (purple)
Lower case = recessive allele
Ex. p (white)
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Important VocabularyGenotype = alleles (letters)
that make up that traitEx. PP
Phenotype = physical appearance of trait
Ex. Purple
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Homozygous: two of the same alleles (a.k.a. purebreed)
Ex. PP or ppHeterozygous: two different
alleles (a.k.a. hybrid)Ex. Pp
Important Vocabulary (Cont.)
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Inheritance Of TraitsIf you inherit one dominant
allele the recessive allele will not be expressed
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Predicting Our TraitsPunnett squares show
possible genotypes
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Setting up a Punnett Square
g
g
G = Green g = White
Alleles from Mother
Alleles from Father
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Interpreting Punnett Squares
G G
g
g
Gg Gg
GgGg
Offspring
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Interpreting Punnett Squares (Cont.)
Offspring are:100 % HeterozygousTheir genotype is GgTheir phenotype is green
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Monohybrid Cross:
Punnett Squares that analyze only one trait:
Depending on the parents alleles they can produce 1 or 2 different gametes for that trait.
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Dihybrid Cross:
Punnett Squares that analyze two traits:
If both parents are homozygous for the two traits only one gamete can be formed (all heterozygous).
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Dihybrid Continued:
If parents are heterozygous for the two traits than 4 types of alleles from male gametes and 4 types of alleles from female gametes can be formed.
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Phenotypic Ratio is:
9:3:3:1
Genotypes: almost all different!
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ProbabilityMeasure of how likely
something will occurEx. What is the probability
of getting heads when you flip a coin?
Ans. 50%
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Punnett squares used to predict the probability of inheriting a trait!
Actual data not perfect- larger # of offspring more likely match the results predicted.
Probability
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Recessive Genetic Disorders
Need to inherit two copies of recessive allele
Tay SachsSickle Cell
Anemia
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More Recessive Genetic Disorders
Cystic FibrosisAlbinismGalactosemia
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Dominant Genetic Disorders
Only need 1 copy of dominant allele
Polydactyly,
Marfan Syndrome
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More Dominant Genetic Disorders
Huntington’s DiseaseAchondroplasia
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Ch 11.2Complex Patterns of
Inheritance
Most traits are not simply dominant or recessive
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Incomplete DominanceDominant & recessive
traits appear to "blend"
Ex. snapdragon flowers
red x white = pink
RR rr Rr
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Incomplete Dominance A homozygous
dominant black cat is crossed with a gray cat and black is incompletely dominant over white. What is the percentage of having a gray kitten?
B B
b
B BB
Bb
BB
Bb
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A gray cat is crossed with another gray cat and black is incompletely dominant over white. Complete a Punnett square and tell me what is the genotypic and phenotypic ratio of that cross?
Incomplete Dominance
Phenotypic ratio:
Genotypic ratio:
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CodominanceTwo traits are
both fully seen
“Co”= together
Ex. Roan Horses have both red & white hairs
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Codominance Both alleles should
be Capital letters since one is not dominant over another.
Cross: Roan Horse X Red Horse
R W
R
R
RR RW
RR RW
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Codominance In humans, wavy hair (CS) results by
the co-dominance pattern of curly hair (C) and straight hair (S). What are the possible results if a wavy-haired man and a straight-haired woman have children?
List Genotypic and Phenotypic Ratios!
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Multiple Alleles Two or more alleles
control the phenotype Ex. Human ABO blood
groups
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Multiple Alleles A woman with type B
(heterozygous) blood and a man with type AB blood are expecting a child. What are the possible blood types of the kids?
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A test was done to determine the biological father of a child. The child’s blood Type is B and the mother’s is Type A. Dude #1 has blood type O and dude # 2 has blood type AB. Which dude is the biological father?
Multiple Alleles
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Polygenic Traits Traits that are controlled
by multiple genes Ex. height,
weight, hair color, skin color
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Skin Color At least 7 different
Genes make up skin color!
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Eye Color
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Sex-Linked TraitsCarried on sex
chromosomes (X and Y)Most are recessive & on X
chromosomeColor blindness, hemophilia
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Affect men more than womenMen have only one X chromosome
Women can be carriers or affected
Sex-Linked Traits (cont.)
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Sex Chromosomes for Female are:
X XSex Chromosomes for male
are:
X Y
Sex-Linked Traits (cont.)
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Fruit fly eye Color
R = Red eyes
r or w = white eyes
What is the probability of having a white eyed male?
Sex-Linked Traits (cont.)
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A female fruit fly that is homozygous for red eyes mates with a male who has white eyes. What is the probability of having a female with white eyes?
Sex-Linked Traits (cont.)
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A woman who is heterozygous for colorblindness has a son with a man who is colorblind. What is the probability that their son will be colorblind?
Sex-Linked Traits (cont.)
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Polyploidy One or more extra chromosomes. 2n = normal number of
chromosomes Humans 46 chromosomes/ 23
pairs 1n = half the number of
chromosomes Sperm or Egg 23 chromosomes
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Triploid (3n)– 3 complete sets of chromosomes.46 + 23 = 69
Most plants; sometimes earthworms and goldfish; Humans always Lethal!
Polyploidy
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Karyotype: photographic arrangement of a complete set of chromosomes
Studying Inheritance
http://trc.ucdavis.edu/biosci10v/bis10v/media/ch08/karyotype.swf
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FROM THIS……..
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……TO THIS
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Chromosomes # 1-22 are autosomes (body chromosomes)
Chromosomes # 23 are the sex chromosomes.
Looking at a karyotype you can see a chromosome mutation.
Studying Inheritance
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______Chromosomal________Abnormalities
• 1 infant in 200 newborns has a chromosomal abnormality
• 28% of first trimester miscarriages have a chromosomal abnormality
• Abnormalities in larger chromosomes don’t usually survive
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____________________________:Change in the ______________ or ____________ of chromosomes
CHROMOSOMAL MUTATIONS
structurenumber
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Homologous chromosomes ________________ during MEIOSIS
= _________________________
One cell gets 2 copies of the chromosome the other cell gets none.
NONDISJUNCTION
fail to separate
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Nondisjunction
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Nondisjunction can lead to:
Down SyndromeTurner’s SyndromeKlinefelter’s Syndrome
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Down syndrome (=____________)TRISOMY 21
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Down syndrome (Trisomy 21)
1 in 800 births
Similar facial features
Slanted eyes
Protruding tongue
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Turner syndrome
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Turner syndrome ____
1 in 5000 births Females have only one X chromosome Small size Slightly decreased intelligence 35% have heart abnormalities Hearing loss common Broad chest Reproductive organs don’t develop at puberty Can’t have children
http://medgen.genetics.utah.edu/photographs/diseases/high/611.gif
XO
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Klinefelter syndrome XXY
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Klinefelter syndrome
1 in 1000 births Males have extra X chromosomes
(Can be XXy, XXXy, or XXXXy) Average to slight decrease in
intelligence Small testes/can’t have children Usually not discovered until puberty
when don’t mature like peers
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Obtaining Fetal Cells ~Making a Karyotype~
1.Amniocentesis: sample of fluid around baby
2.Chorionic Villus Sampling: sample of tissue from the placenta
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Amniocentesis
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Chorionic Villus Sampling
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Pedigree: chart that tracks the inheritance of a trait through multiple generations
Studying Inheritance (cont.)
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Generation Symbols
P = Parental F1 = Offspring of P generation
F2 = Offspring of F1 generation
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P Generation
F1 Generation
F2 Generation
Generation Symbols (cont.)
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Interpreting the Pedigree
Carrier
Affected
Male
Female
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Dominant Disorder Example:
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Recessive Pedigree Example:
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Create A Pedigree: One couple has a son and a daughter
with normal pigmentation. Another couple has one son and two daughters with normal pigmentation. The daughter from the first couple has three children with the son of the second couple. Their son and one daughter have albinism; their other daughter has normal pigmentation.