Genetics and Inheritance
Define the following. Give an example in corn from the lab of each:
Allele
Genotype
Phenotype
Homozygous
Heterozygous
Dominant
Recessive
Define the following in your notebooks:
1. Genetics
2. Inheritance
3. chromosome
4. DNA
5. RNA
6. Protein
7. homologous chromosome
8. autosome
9. sex chromosome
10. Fertilization
11.Gene
12.Trait
13.Allele
14. Segregation
15. Gametes
16. Dominant
17. Recessive
18. Homozygous
19. Heterozygous
20. Genotype
21. Phenotype
22. Independent assortment
23. Punnett square
24. Incomplete dominance
25. Codominance
26. Multiple allele traits
27. Sex-linked traits
28. Crossing Over
29. Sexual reproduction
30. Asexual reproduction
Chromosome –compact structures of DNA
I80 runs 2916 miles from San Francisco, CA
to Teaneck, NJ
Compacted 7000 fold--0.42 miles
<1/10th Bay Bridge
What is 7000 fold compaction?
I. Anatomy of a Chromosome
A. Human chromosomes
In humans:
B. Genome
C. Chromosome types
How many chromosomes are in each human somatic cell?
How many autosomes are in a human cell?
How many sex chromosomes are in a human cell?
Gorillas have 48 chromosomes in each cell. How many sex chromosomes do they have?
Y Chromosome
Chromosome number
D. Homologous chromosomes
How many chromosomes is in a sperm or egg cell?
Questions for review
Human Chromosomes
Total chromosomes in a body cell | Autosomes in a body cell | Sex chromosomes in a body cell | Total chromosomes in a sex cell | Autosomes in a sex cell | Sex chromosomes in a sex cell |
| | | | | |
E. Karyotype
Karyotype – a picture of an individual’s chromosomes arranged from largest to smallest
Amniocentesis
Trisomy 21; Down Syndrome
Can survive to age 50
Mental retardation
Normal male, XY
Trisomy 21; Down Syndrome
Can survive to age 50
Mental retardation
Trisomy 13; Patau Syndrome Trisomy 18; Edwards Syndrome
Most fetuses spontaneously abort
Those that make it die in first year
Turner syndrome, XO
Female
Short, wide-chested
Underdeveloped breasts
Rudimentary ovaries
Sterile
Normal intelligence
Klinefelter syndrome, XXY
Male
Phenotype of syndrome
not apparent until puberty
Breast development
Low fertility
Subnormal intelligence
XYY Individuals
~5% criminals with violent and antisocial behavior are XYY,
but only 0.1% of males in population XYY
Does this syndrome cause violent behavior?
Should this syndrome be used as a defense in criminal trials?
XXX Females are normal
XXXX and XXXXX females also exist
SRY is both necessary and sufficient for male development
The mouse on the left is XY and the mouse on the right is XX with the sry gene inserted into its X crhomosome. Both are functioning males!!!
SRY is a transcription factor that binds DNA and regulates the expression of other genes.
Male-specific behaviors are controlled by SRY!
Tasting PTC
phenylthiocarbamide
Dominant?
Recessive?
Genotype?
Phenotype?
Allele?
If PTC tasting is dominant and Chuck is a taster for PTC, what are his possible genotypes?
If Chuck got a recessive allele from his father, what allele did he get from his mother?
Gregor Mendel
Mendel’s Pea Plants (28,000!)
Review Questions?
Term | Definition | Example from Corn |
Allele | | |
Dominant | | |
Recessive | | |
Heterozygous | | |
Homozygous recessive | | |
Homozygous dominant | | |
Genotype | | |
Phenotype | | |
Mendel's work showed:
Which is the trait which is the allele
Mendel’s results produced 3 principles of inheritance
1. Complete Dominance
For a heterozygous trait where an individual has inherited two different alleles for a trait:
The pattern of inheritance is complete dominance if one allele completely masks the other allele.
When Gregor Mendel bred pure tall plants with pure dwarf plants all offspring were tall.
What was the dominant allele?
When Gregor Mendel bred pure tall plants with pure dwarf plants all offspring were tall.
What allele was being masked in the offspring?
When Gregor Mendel bred pure tall plants with pure dwarf plants all offspring were tall.
What was the genotype of the tall offspring?
BB or bb, YY or yy
Bb, Yy, Rr, Ss…
(dominant alleles mask
recessive alleles)
How to make a Punnett Square:
1.Write the parents genotypes and phenotypes:
Tt x Tt
(Tall) (Tall)
2. Write the possible parent alleles on the Punnett Square:
3. Fill in the possible offspring in the Punnett Square boxes:
4. Calculate the probabilities of the phenotypes:
Tall = ________ Short = __________
| |
| |
TT | Tt |
Tt | tt |
T t
T t
T
t
T
t
Examples of Punnett Squares
More Examples of Punnett Squares
Punnett Squares
Complete the following punnett squares.
Female Dark pigment (Dd) rabbit bred with a male light pigment (dd) rabbit.
Which parent was homozygous?
Punnett Squares
Complete the following punnett squares.
Female Dark pigment (Dd) rabbit bred with a male light pigment (dd) rabbit.
What was the phenotype of the female rabbit?
Punnett Squares
Complete the following punnett squares.
Female Dark pigment (Dd) rabbit bred with a male light pigment (dd) rabbit.
What was the genotype of the female rabbit?
Female Dark pigment (Dd) rabbit bred with a male light pigment (dd) rabbit.
What was the probability of this pair having a dark pigmented offspring?
In humans a type of albinism is due to a dominant allele, normal pigment is the result of a recessive allele. If the mother has normal pigment and the father is heterozygous...
What is the mother’s genotype?
In humans a type of albinism is due to a dominant allele, normal pigment is the result of a recessive allele. If the mother has normal pigment and the father is heterozygous...
What is the father’s genotype?
In humans a type of albinism is due to a dominant allele, normal pigment is the result of a recessive allele. If the mother has normal pigment and the father is heterozygous...
What is the mother’s phenotype?
In humans a type of albinism is due to a dominant allele, normal pigment is the result of a recessive allele. If the mother has normal pigment and the father is heterozygous...
What is the father’s phenotype?
In humans a type of albinism is due to a dominant allele, normal pigment is the result of a recessive allele. If the mother has normal pigment and the father is heterozygous...
Make a Punnett Square
In humans a type of albinism is due to a dominant allele, normal pigment is the result of a recessive allele. If the mother has normal pigment and the father is heterozygous...
What percentage of offspring will have albinism? (Answer between 0-100)
Non Mendelian Genetics
You will be assigned one pattern of inheritance.
Blood typing experiment
The ABO blood type gene is controlled by 3 alleles: IA, IB, and i. The +/- blood type gene is controlled by 2 alleles: Positive type is dominant (D) and negative type is recessive (d).
Test the blood samples and list the phenotypes and all possible genotypes of each patient.
Patient Sample | Reaction to Anti-A | Reaction to Anti-B | Reaction to Anti-D | Phenotype of Patient | All possible genotypes of patient |
1 | | | | | |
2 | | | | | |
3 | | | | | |
4 | | | | | |
In peas Yellow (Y) is dominant to green (y).�Round (R) is dominant to wrinkled (r).�
Parents were dihybrid (RrYy).
What are the possible gametes for each parent?�Complete a Punnet square.
2. Principle of Segregation
Organisms don’t just inherit one trait or gene
3. Principle of Independent Assortment
Parent: Normal,Normal Normal, Normal
Aa Bb x Aa Bb
↓ ↓
cont.
1)How many traits? 2
2)How many different alleles?4
3)Make the Punnett Square…
(on next slide)
| | | |
| | | |
| | | |
| | | |
Genetics of Corn Lab
Quiz: In corn purple is dominant to yellow and smooth is dominant to wrinkled. Additionally, tall is dominant to short.
aa – sickle cell anemia
ff – cystic fibrosis
ss – spinal muscular atrophy (SMA)
Determine the phenotype probabilities of the offspring for question 1 and 2.
aa – sickle cell anemia
ff – cystic fibrosis
mm – spinal muscular atrophy (SMA)
Determine the phenotype probabilities of the offspring for question 1 and 2.
aa – sickle cell anemia
ff – cystic fibrosis
Mm – spinal muscular atrophy (SMA)
Manifestations of cystic fibrosis
Homework
aa – sickle cell anemia
ff – cystic fibrosis
ss – spinal muscular atrophy (SMA)
Pea Plants
Yellow = dominant (Y), green = recessive
Round = dominant (R), wrinkled = recessive
Yyrr x yyRr
Pattern of inheritance | Description of inheritance | Example: Parents are both heterozygous. List�Parents’ genotype and phenotypes | Example: �Punnett square AND probability of offsprings’ phenotypes |
Incomplete Dominance | | | |
Codominance | | | |
Multiple Alleles | | | |
Other Patterns of Inheritance
Other Patterns of Inheritance
Incomplete dominance – where the heterozygous offspring look in between the 2 alleles
Codominance – where both alleles are expressed, and do not blend in a heterozygous offspring
3. What is this pattern of inheritance?
4. Brown is (CC) and chinchilla is (cchcch). Predict the phenotype of a Ccch rabbit.
4. A roan horse has red and white hair caused by mating a red horse with a white horse. What is the pattern of inheritance?
What is the pattern of inheritance?
What
PTC results
Genetic tests were performed on both parents that were heterozygous PTC tasters
Male tasters = 380 , Female tasters 370
Male non-tasters = 123, Female non-tasters = 127
Extending Mendelian Genetics for Two or More Genes
Polygenic inheritance: Some traits may be determined by two or more genes
Polygenic Inheritance
Figure 14.13
Eggs
Sperm
Phenotypes:
Number of�dark-skin alleles:
0
1
2
3
4
5
6
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/64
6/64
15/64
20/64
15/64
6/64
1/64
AaBbCc
AaBbCc
Figure 14.12
Sperm
Eggs
9
: 3
: 4
1/4
1/4
1/4
1/4
1/4
1/4
1/4
1/4
BbEe
BbEe
BE
BE
bE
bE
Be
Be
be
be
BBEE
BbEE
BBEe
BbEe
BbEE
bbEE
BbEe
bbEe
BBEe
BbEe
BBee
Bbee
BbEe
bbEe
Bbee
bbee
What is the genotype of X?
What is the phenotype of X?
What is the phenotype of Y?
What is the genotype of Y?
What is the phenotype of Z?
Explain why a black and chocolate labrador can have the same genotype EE or Ee.
Explain why a black and yellow labrador can have the same genotype BB or Bb.
What is the phenotype of dog 6?
How can a yellow dog (3) and a chocolate dog (4) have a black offspring (6)?
What is the pattern of inheritance for the coat color of labradors?
4 o'clock flowers have three flower colors: red, white and the heterozygote is pink. If two pink flowers produced offspring, what is the probability of the offspring being pink flowers?
What is the pattern of inheritance for the color of 4 o’ clock flowers?
Multiple Alleles - Most genes have more than two alleles for a single gene
For example, ABO blood group in humans on red blood cells:
i (recessive allele) =Type O
Phenotypes | Genotypes |
Type AB | |
Type A | |
Type B | |
Type O | |
Figure 14.11
Carbohydrate
Allele
(a) The three alleles for the ABO blood groups and their� carbohydrates
(b) Blood group genotypes and phenotypes
Genotype
Red blood cell�appearance
Phenotype�(blood group)
A
A
B
B
AB
none
O
IA
IB
i
ii
IAIB
IAIA or IAi
IBIB or IBi
A mother is heterozygous for type A blood and the father is heterozygous for B blood.
What are all the possible blood types for their children?
| Mother | Father |
Genotype | | |
Phenotype | | |
Possible Gametes | | |
5. The Environmental Impact on Phenotype
Figure 14.14
X-linked traits and Y
-linked traits
Genes located on the X and Y chromosomes.
Human X and Y chromosome. Which is which?
X-linked traits
For example, colorblindness is a recessive allele (c) only found on the X chromosome.
What are the phenotype probabilities of a cross between an XX female carrier of colorblindness and a normal sighted XY male?
| Mother | Father |
Genotype | | |
Phenotype | | |
Possible Gametes | | |
If a father is colorblind (XcY) will he pass this on to his sons?
X-linked traits (on X chromosome only)
Practice Problems
XHXh x XHY�What is the typical female?
XHXh x XHY�What is the typical male?
Draw a Punnett Square� XHXh x XHY
XHXH x XhY�What is the male?
� XHXh x XHY
What is the phenotype of the parents?
Hemophilia is a recessive X-linked condition.
� XHXh x XHY
What is the chance of having a typical male with hemophilia?
� XHXh x XHY
What is the chance of having a typical female with hemophilia?
Meiosis: Sex-cell Formation
advantage of sexual reproduction?
_________________ - reproductive cells (ovum and sperm) that carry only 1 of each homologous chromosome.
Twins
Identical Twins & Fraternal Twins
Studying Human Inheritance
Pedigree- a family record that shows how a trait is inherited over several generations.
Birth Sex Male
Birth Sex Female
Pedigree of the Hapsburg Lip and Jaw
Affected traits can be dominant or recessive
Birth Sex Male
Birth Sex Female
The following is the pedigree of a trait controlled by __________ genotype.
*Determine the genotypes for as many of the offspring as possible.
Determine the genotypes
What is this pedigree?
Identify the blood type
Anti-A antibodies | |
Anti-B antibodies | |
Anti-D antibodies | |
Pedigree of Duchenne Muscular Dystrophy
Xc
Pedigree of Duchenne Muscular Dystrophy
What is the phenotype of someone with the XdXd genotype?
Pedigree of Duchenne Muscular Dystrophy
What is the phenotype of someone with the XdY genotype?
Pedigree of Duchenne Muscular Dystrophy
What is the phenotype of someone with the XDXd genotype?
What usually determines the sex of human males?
The sex of most turtles, alligators, and crocodiles is determined after fertilization. The temperature of the developing eggs is what decides whether the offspring will be male or female. This is called temperature-dependent sex determination, or TSD.
Research shows that if a turtle's eggs incubate below 81.86 Fahrenheit, the turtle hatchlings will be male. If the eggs incubate above 87.8° Fahrenheit, however, the hatchlings will be female. Temperatures that fluctuate between the two extremes will produce a mix of male and female baby turtles.
What is the sex of a turtle that incubated at temperatures between 75-80 degrees?
A Pedigree of Hemophilia in the Royal Families of Europe
The purpose of meiosis is to create genetically unique sex cells by:
Stages of Meiosis
Meiosis I:
Prophase I
Metaphase I
Anaphase I
Telophase I
Meiosis II:
Prophase II
Metaphase II
Anaphase II
Telophase II
A. Meiosis I:
Before Meiosis starts interphase takes place
1. Prophase I:
Most important stage in meiosis
Crossing Over
2. Metaphase I
3. Anaphase I
4. Telophase I
Telophase
After telophase I, DNA does NOT copy itself!
Telophase
Meiosis
B. Meiosis II is identical to mitosis except for the number of chromosomes is exactly ½.
5. Prophase II
6. Metaphase II
7. Anaphase II
8. Telophase II
What stage is this?
Variation by sexual Reproduction
Comparing Meiosis and Mitosis
1. Chromosome behavior
a. _________________ : Homologous chromosomes independent
b. _________________ : Homologous chromosomes pair until anaphase I
2. Chromosome number- reduced in meiosis
a. _________________ identical daughter cells
b. _________________ daughter cells haploid
3. Genetic identity of offspring:
a. _________________ : identical daughter cells
b. _________________ : daughter cells have new assortment of parental chromosomes
c. _________________ : chromatids not identical, crossing over
Advantage of Sexual Reproduction
Introduces genetic variation through:
Allows adaptations to variable environments.
Advantages of Asexual Reproduction
Genetically identical, no variation
Clones – If well adapted to environment all offspring will be equally well adapted
What is the purpose of a gene?
The purpose of a gene is to provide the code for the instructions to produce proteins.
What are genes?
Sequence of DNA that codes for a protein and thus determines a trait.
What does allele mean?
A different form of a gene.
Homozygous
Homozygous has identical pairs of genes for any given pair of hereditary characteristics.
A
A
A
A
AA
AA
AA
AA
These parents are homozygous with a dominant allele for large ears. The outcome of large ears is 100%
heterozygous
Have dissimilar pairs of any hereditary.