BIOL 160 Genetics Terms Gene = a section of DNA (on a chromosome) that codes for a specific trait Alleles = alternate forms of a gene Where are the alleles of a gene located? How many alleles can a person inherit for any one trait? How many alleles are there in a population for a particular trait such as hair color?

Genetic terms, continued… BIOL 160 Genetic terms, continued… Dominant allele = Homozygous dominant = Heterozygous = Homozygous recessive = aa Recessive trait is expressed Genotype = particular alleles a person carries: AaBBccDd Phenotype = an individual’s observable traits (hair color, eye color, height,….

BIOL 160 Fig 9.7

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Gregor Mendel, the father of genetics BIOL 160 Gregor Mendel, the father of genetics Each offspring inherits two units (alleles) of information, one from each parent

BIOL 160 Fig 9.6 a

True-breeding plants (homo-zygous) BIOL 160 True-breeding plants (homo-zygous) Fig 9.6b All plants had purple flowers, all heterozygous

Monohybrid cross: Pp x Pp BIOL 160 Monohybrid cross: Pp x Pp Punnett square predicts a phenotypic ratio of 3:1 for the F2 Generation

Mendel’s Principle of Segregation BIOL 160 Mendel’s Principle of Segregation Formation of gametes from a pre-gamete cell Genotype of Pre-gamete cell: meiosis Genotype of Gametes: Aa A a

The Chromosomal Basis of Mendel’s Principle of Segregation: BIOL 160 The Chromosomal Basis of Mendel’s Principle of Segregation:

Pea shape gene Round allele (R) Wrinkled allele (r) Seed color gene BIOL 160 Pea shape gene Round allele (R) Wrinkled allele (r) Seed color gene Yellow allele (Y) Green allele (y) Nucleus Mendel’s Second question: how do 2 pairs of genes (on different chromosomes) assort into gametes? –

Mendel’s 2nd experiment: BIOL 160 Mendel’s 2nd experiment: Fig 9.08

BIOL 160 Fig 9.08 9 3 3 1

Mendel’s principle of independent assortment BIOL 160 Mendel’s principle of independent assortment =

R r r R y Y y Y r R r R Y y y Y RY ry Ry rY (figure not in book) BIOL 160 (figure not in book) R r r R y Y y Y r R r R Y y y Y RY ry Ry rY

Laws of Probability—application to inheritance BIOL 160 Laws of Probability—application to inheritance The results of one trial of a chance event do not affect the results of later trials of that same chance event E.g. Tossing of a coin, gender of children, etc.

Laws of Probability—application to inheritance BIOL 160 Laws of Probability—application to inheritance The Multiplication Rule: What are the chances of a couple having 4 girls? E.g. What are the chances of a couple having a boy with the following characteristics: Brown hair (3/4), Non-tongue roller (1/4), Blue eyes (1/4), Attached earlobes (1/4)

How to Solve Genetics Problems BIOL 160 How to Solve Genetics Problems Sample Problem: Mom and dad are heterozygous for tongue rolling where tongue rolling is dominant to non-rolling. What is the chance that the couple will produce a child that is a non-roller?

Select a letter to represent the gene involved: BIOL 160 Use the following steps as a general guide to solve this and other problems: Select a letter to represent the gene involved: Write the genotypes of the parents. Determine all possible gametes for each parent.

BIOL 160 4. Make a Punnett square to represent all possible gamete combinations between the two parents and determine the genotypes of the offspring. 5. Use the genotypes found in the Punnett Square to determine the possible phenotypes of the offspring to answer the question.

Types of genetics problems: Monohybrid Cross BIOL 160 Types of genetics problems: Monohybrid Cross Sample problem: A true breeding black mouse was crossed with a true breeding brown mouse to produce the F1 generation, below. The F1 generation was then inbred to produce an F2 generation. a.) Which allele is dominant? How do you know? b.) Determine the genotypes and phenotypes for all 3 generations c.) Predict the genotypic and phenotypic ratios for the F2

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Monohybrid Cross Sample Problem #2 BIOL 160 Monohybrid Cross Sample Problem #2 A mouse with black fur was crossed with a mouse with brown fur to produce the F1 generation, below. The F1 generation was then inbred to produce the F2 generation. Dominance is the same as in sample problem #2. a.) Determine the genotypes and phenotypes for all 3 generations b.) Predict the genotypic and phenotypic ratios for the F2.

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Monohybrid Cross Sample Problem #3 BIOL 160 Monohybrid Cross Sample Problem #3 A couple, Jack and Jill, is concerned about having a child with cystic fibrosis. Although both of Jack’s and both of Jill’s parents are healthy and show no signs of cystic fibrosis, both Jack and Jill each had a sister die of the disease. The couple went to a clinic to be genetically tested for cystic fibrosis and were each found to be heterozygous for cystic fibrosis. What are the chances of Jack and Jill having a…. a.) phenotypically healthy child? b.) child that is homozygous dominant? Heterozygous? Homozygous recessive? c.) girl with cystic fibrosis? Boy with cystic fibrosis?

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Types of Genetics Problems: Dihybrid Cross BIOL 160 Dihybrid Cross Sample Problem #1: True breeding parental pea plants were crossed to produce the F1 generation, below. The F1 generation was inbred to produce an F2 generation. a.) Which alleles are dominant? How do you know? b.) Determine the genotypes and phenotypes for all 3 generations P: Long & purple flowered pea plant x Short & white flowered pea plant F1: All Long & Purple Flowered pea plants F2: 9 Long & Purple : 3 Long & White : 3 Short & Purple : 1 Short & White

Genotype ratio for F2: 1/16 = YYRR 2/16 = YYRr 2/16 = YyRR 4/16 = YyRr BIOL 160 Genotype ratio for F2: 1/16 = YYRR 2/16 = YYRr 2/16 = YyRR 4/16 = YyRr 1/16 = YYrr 2/16 = Yyrr 1/16 = yyRR 2/16 = yyRr 1/16 = yyrr

BIOL 160 Example From the crosses below, what are the chances of producing an organism with all dominant phenotypes? recessive phenotypes? homozygous dominant genotypes? AaBb x AaBb AaBbCc x AaBbCc AaBBCc x aabbcc

How to use the probability method BIOL 160 How to use the probability method Treat the problem as if it consisted of several monohybrid crosses Determine the gametes for each of these monohybrid crosses Make a Punnett square for each of the monohybrid crosses Use the information from each Punnett square and the “multiplication rule” to solve the problem

Non-Mendelian Inheritance BIOL 160 Non-Mendelian Inheritance Sometimes there are more than 2 alleles in a population

1. Codominance Both alleles expressed together as heterozygotes BIOL 160 1. Codominance Both alleles expressed together as heterozygotes

Codominance: Blood Types BIOL 160 Codominance: Blood Types Blood Type (Phenotype) Surface Molecule on R.B.C. Possible Genotypes A IAIA or IAi B IBIB or IBi AB IAIB O ii Alleles IA = Allele for Type A IB = Allele for Type B i = Allele for Type O What do these alleles code for? Different carbohydrate “markers” on the RBCs

Blood Types: Sample Problem #1 BIOL 160 Blood Types: Sample Problem #1 A couple has the type A and Type B, respectively. Is it possible for them to have a child with the following blood types? Type O Type A Type B Type AB

Blood Types: Sample Problem #2 BIOL 160 Blood Types: Sample Problem #2 A couple has the type A and Type AB, respectively. Is it possible for them to have a child with the following blood types? If so, what is the genotype of each parent? Type O Type A Type B Type AB

Rhesus Factor—a RBC surface molecule BIOL 160 Rhesus Factor—a RBC surface molecule Rh factor is inherited independently from the ABO system Rh positive people: Rh Negative people: Alleles R = Rh factor is present r = no Rh factor present Phenotype Possible Genotypes Rh + (Rh positive) Rh- (Rh negative)

Blood Types: Sample Problem #3 BIOL 160 Blood Types: Sample Problem #3 A couple has the type A+ (heterozygous) and Type AB+, respectively. What are the chances of the couple having a child with the following phenotypes? Both parents are heterozygous for the rhesus factor. Type O+ b. Type O- c. Type A+ d. Type A- e. Type B+ f. Type B- g. Type AB+ h. Type AB-

2. Incomplete dominance One allele isn’t fully dominant over the other BIOL 160 2. Incomplete dominance One allele isn’t fully dominant over the other

BIOL 160 Fig 9.16

3. Continuous variation in a population BIOL 160 3. Continuous variation in a population Individuals in a population show a range of small differences in a certain trait Ex. Causes: 1. 2. Multiple environmental factors affect gene expression.

Polygenic inheritance: BIOL 160 Fig 9.21 Polygenic inheritance: aabbcc AABBCC

2. Environmental influence on gene expression: Ex. BIOL 160 2. Environmental influence on gene expression: Ex.

Human Genetics Three types of disorders: Autosomal recessive – BIOL 160 Human Genetics Three types of disorders: Autosomal recessive – Autosomal dominant : AA – embryo dies Aa – is afflicted aa – normal individual Ex. Dwarfism Vary rare

3. Sex-linked recessive inheritance BIOL 160 3. Sex-linked recessive inheritance Recessive on X-chromosome e.g. Males usually get the disorder more than females – why? Son cannot inherit a recessive allele from his father but a daughter can. Why?

Human Sex Chromosomes Sex chromosomes in humans Female Genotype = BIOL 160 Human Sex Chromosomes Sex chromosomes in humans Female Genotype = Male Genotype = Sex-linked Alleles are carried on the X-chromosome Y-chromosome SRY gene on Y chromosome stimulates gonads to differentiate into male sex organs. SRY = Sex-determining Region, Y-chromosome

Gender Determination in Humans BIOL 160 Parents Female Male Gender Determination in Humans Chromosomes segregate in meiosis Sperm Offspring Eggs Two daughters Two sons

BIOL 160 Sample Problem Mary’s paternal and maternal grandfathers are both colorblind. There is no evidence of colorblindness in either grandmother’s family histories, and Mary’s father is not colorblind a. What is Mary’s genotype? Phenotype? b. What are the chances that Mary’s brother is colorblind?

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BIOL 160 Other genetic diseases can arise through changes in chromosome structure