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GENETICS 1
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How did the study of Genetics begin?
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Gregor Mendel Genetics is the branch of biology that deals with heredity. A great deal of what we know about genetics began with the work of a monk named Gregor Mendel, who experimented with sweet pea plants in the 1800s. 2
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3 Mendel’s Work Mendel studied the patterns of inheritance in pea plants. He chose seven traits to follow.
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Mendel needed to make sure he had plants that always gave the same offspring-called true breeding.
He “self-pollinated” plants until he got seeds that always gave the same offspring. 5
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Some plants can self-pollinate or cross-pollinate with another plant.
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He took a purple flower plant and crossed it with a white flower plant?
He called these the parent generation (P generation) What do you think the offspring looked like? Pollen X ALL PURPLE 7
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POLLEN F1 SAY WHAT??????? F2 8
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9 Mendel concluded: 2. Something is being passed from parent to offspring. He called these “Factors” 3. Sometimes you can see “it” and sometimes you can’t see “it”. 4. If you can see it- it is dominant. 1. If it’s there and you can’t see it- it’s recessive.
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5. There are two versions of these “FACTORS”.
10 5. There are two versions of these “FACTORS”. 6. To show the two version we use a capital letter for the dominant (S) version of the trait and a lower case for the recessive version (s) of the trait. ADD TO NOTES: Each Version is called an Allele.
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Each chromosome has many genes, but the alleles may be different
11 Alleles are different versions of the same gene.
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Common Physical Human Traits- Different Alleles
13 Trait Dominant Recessive Chin cleft Absent (C) Present (c) Dimples Present (D) Absent (d) Earlobe shape Free (F) Attached (f) Eye shape Almond (A) Round (a) Eye position Straight (S) Upward slant (s) Eyebrow position Connected (Y) Not connected (y) Eyebrow shape Bushy (B) Fine (b) Eyelash length Long (L) Short (l) Face shape Round (R) Square (r) Freckles Present (P) Absent (p) Hair Curly (H) Straight (h) Tongue rolling Can roll (T) Can't roll (t) Widow's peak Present (W) Absent (w) Activity
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WHAT WE KNOW NOW 14
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Chromosome Anatomy 15
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16 We have two copies of all of our chromosomes Why?
These are called Homologous Chromosomes 16
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BOY OR GIRL? Karyotype 17
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18 DNA codes for Proteins
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What is a gene? 19 A segment on the chromosome that codes for a protein. People have two copies of each gene, one copy inherited from the mother and the other copy inherited from the father. There are many versions of each gene-alleles
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Remember: Genes come in pairs. **One from your mother **One from your father.
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If the two alleles in the pair are identical, then the condition called homozygous. The term “purebred” is sometimes used. 20.1
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If the 2 alleles are different, the condition is called heterozygous
If the 2 alleles are different, the condition is called heterozygous. The term “hybrid” is sometimes used to refer to heterozygous. 20
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21 What the genes/alleles are …RR.…Rr
What the organism looks like…… Red…..White
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Genotype Phenotype
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Meiosis Review Animation
How did you end up with the traits and genes that you got? During meiosis, each egg or sperm only gets one copy of each chromosome. Meiosis Review Animation 23
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24 Law of Dominance Mendel’s Laws States that the dominant allele will prevent the recessive allele from being expressed. The recessive allele will appear when it is paired with another recessive allele in the offspring. Remember: Genes Come in Pairs!
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Each gamete has only one allele of each gene pair. (haploid)
Law of Segregation (separation) states that gene pairs separate when gametes (sex cells) are formed Each gamete has only one allele of each gene pair. (haploid) Mendel’s Laws A b a B S Phase A b A b a B a B Makes a copy gene pairs separate 25 A b A b a B a B Goes through Meiosis
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states that different pairs of genes separate
Law of Independent Assortment states that different pairs of genes separate independently of each other when gametes are formed. 26 Mendel’s Laws Example: Just because you get the gene for brown hair does not mean you will get the gene for blue eyes. Animation
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27 REVIEW A trait is a characteristic an individual receives from its parents. Genes carry the instructions responsible for the expression of traits. A pair of inherited genes controls a trait. One member of the pair comes from each parent. Alternative versions of genes are known as alleles.
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REVIEW Mendel’s Principles of Inheritance
Inherited traits are transmitted by genes which occur in alternate forms called alleles Principle of Dominance - when 2 forms of the same gene are present the dominant allele is expressed Principle of Segregation - in meiosis two alleles separate so that each gamete receives only one form of the gene Principle of Independent Assortment - each trait is inherited independent of other traits (chance) 28 Peas in a pod- Genetics Clip
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Example EOCT Question:
Earlobe shape is a human trait. Some people have free earlobes while others have attached earlobes. Two parents with free earlobes have four children. Three children have free earlobes and one child has attached earlobes. If these parents have another child, what is the probability that the child will have attached earlobes? A 25% B 50% C 75% D 100% 32
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Predicting possible outcomes of a genetic cross.
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Punnett Squares Geneticist use punnett squares to determine the probability of a combination of alleles. For example: If a heterozygous black rabbit is crossed with a heterozygous black rabbit, what are the chances the offspring will be black? 31
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B=Black b= Brown Genotypes? Phenotypes? 30
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31 Claymation Clip
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Example EOCT question:
In humans, a widow’s peak is dominant over a continuous hairline. Mary’s father has a widow’s peak, but Mary and her mother have a continuous hairline. What is the genotype of Mary’s father? A HH B Hh C hh D cannot be determined 33
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Incomplete dominance is a cross between organisms with two different phenotypes produces offspring with a third phenotype that is a blending of the parental traits. 35
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Incomplete Dominance 36
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Codominance With codominance, a cross between organisms with two different phenotypes produces offspring with a third phenotype in which both of the parental traits appear together. DO NOT blend together. 39
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Codominance Types Both phenotypes are expressed at the same time.
Example: Blood Types Genotype Phenotype IOIO Type O IAIO Type A IAIA IBIO Type B IBIB IAIB Type AB There are 3 alleles for blood type- multiple alleles 40
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Codominance R = allele for red flowers W = allele for white flowers red x white ---> red & white spotted 41
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Many traits are controlled by more than one gene.
Polygenic traits Many traits are controlled by more than one gene. Ex: Skin Color 43
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Sex Linked Traits Traits associated with particular sexes are called sex-linked or X-linked traits. Examples of Sex-linked Traits: Red-green colorblindness Hemophilia 44
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Linked Genes 45 Occurs when particular alleles are inherited jointly.
They tend to be inherited together, for example, red hair and freckles.
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1st 22 are Autosomes, the last pair (XY) are sex chromosomes)
Karyotype 46
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Charts that show relationships within a family
Pedigree 47
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How many boys? __________________
How many Girls? __________________ How many generations? _______________ How many with the disorder? ____________ How many marriages are shown? ____________ 13 12 3 4 6
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48 How many generations? How many carriers? How many affected males?
How many affected females? Autosomal or sex-linked? 48
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What can you tell by the pedigree?
Autosomal-Dominant What can you tell by the pedigree? Dominant or recessive? Autosomal or sex-linked?
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What can you tell by the pedigree?
SEX-LINKED What can you tell by the pedigree? Dominant or recessive? Autosomal or sex-linked?
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What can you tell by the pedigree?
SEX-LINKED What can you tell by the pedigree? Dominant or recessive? Autosomal or sex-linked?
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Autosomal or sex-linked?
Dominant or recessive? Autosomal or sex-linked? Autosomal -Dominant NO carriers when Dominant.
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Carriers when recessive.
Autosomal -Recessive Carriers when recessive.
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Pedigree Practice-Smart board
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Genetic Disorders 49
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Huntington’s Disease 49 1/2
Progressive, degenerative disease that causes certain nerve cells in your brain to waste away. Experience uncontrolled movements, emotional disturbances and mental deterioration. No cure. Fatal. ages:30-60 Dominant Allele 49 1/2
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Colorblindness Sex-linked trait
Gene for color vision located on the X chromosomes. Males are more likely to have colorblindness because they have only one X chromosome 50
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What do you see? What do you see? 51
The individual with normal color vision will see a 5 revealed in the dot pattern. An individual with Red/Green (the most common) color blindness will see a 2 revealed in the dots. 51
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TEST 53
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Down Syndrome Sister chromatid DO NOT separate during Meiosis.
3 copies of chromosome #21. Sister chromatid DO NOT separate during Meiosis. (or homologues fail to separate ) Nondisjunction Also called: Trisomy 21 54
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Nondisjunction Sister chromatid DO NOT separate during Meiosis.
Or homologues fail to separate during Meiosis.
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Down Syndrome - Trisomy 21
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Nondisjunction 57
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Down Syndrome 58
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Cystic Fibrosis CF is caused by a recessive allele on chromosome #7. More than 1,000 different mutations in the CFTR gene have been identified Deletion of 3 bases. Affects the body's respiratory and digestive systems. 59.1
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Cystic Fibrosis 59.2 1 in 29 Caucasian Americans have the allele.
Asian & African-less likely to have. More than 10 million Americans carry the cystic fibrosis gene Treatments: Pancreatic enzyme replacement therapy to allow proper food digestion Bronchodilators (also used by people with asthma) that help keep the airways open Inhaled antibiotics to kill the bacteria that cause lung infections Chest physical therapy, in which the patient is repeatedly clapped on the back to free up mucous in the chest Gene therapy ?????? Currently in clinical trials 59.2
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Hemophilia 60 Recessive allele Sex-liked Trait (X chromosome)
more commonly in males Located on the X chromosome Missing a protein necessary for blood clotting Major bleeding from minor cuts. 60
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Mis-shaped blood cells.
Sickle Cell People who carry the tendency to have sickle cell anemia are less likely to die from malaria. Mis-shaped blood cells. 62
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Mis-shaped blood cells.
Sickle Cell Mis-shaped blood cells. Most commonly affects African-Americans. About 1 out of every 500 African-American babies born in the United States has sickle cell anemia. Interesting fact: Unlike normal red blood cells, which can live for 120 days, sickle-shaped cells live only 10 to 20 days. 63
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Tay-Sachs Progressively destroys nerve cells (neurons) in the brain and spinal cord. Harmful quantities of a fatty acids accumulate in the nerve cells of the brain. Caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials More common in people of Ashkenazi (eastern and central European) Jewish heritage Fatal 64
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Gene Therapy 65
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Example EOCT question:
What is nondisjunction? A. failure of chromosomes to separate during meiosis B. failure of the cytoplasm to divide properly C. the insertion of a gene into a different chromosome D. the deletion of a gene from a chromosome 66
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B gene chromosome protein C cell respiration ATP protein
Which of the following shows how information is transformed to make a protein? A DNA RNA protein B gene chromosome protein C cell respiration ATP protein D ATP amino acid protein 67
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Information on mRNA is used to make a sequence of amino acids into a protein by which of the following processes? A replication B translation C transcription D transference 68
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phenotypic ratio of the offspring?
Pea plants have seeds that are either round or wrinkled. In this cross, what will be the phenotypic ratio of the offspring? A 50% RR and 50% Rr B 25% RR, 50% Rr, and 25% rr C 50% round seeds and 50% wrinkled seeds D 100% round seeds 69
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What is a source of genetic variation? A mutation B adaptation
C replication D transcription 70
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and reappeared in the next generation is called the
In Mendel’s experiments with a single trait, the trait that disappeared in the first generation and reappeared in the next generation is called the A homozygous trait B dominant trait C recessive trait D heterozygous trait 71
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What pattern of inheritance is this?
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Human Genome Project
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What would one gene say to another?
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FIN
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Cloning
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