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№3 слайд
![The particulate hypothesis is](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img2.jpg)
Содержание слайда: The “particulate” hypothesis is the idea that parents pass on discrete heritable units (genes)
The “particulate” hypothesis is the idea that parents pass on discrete heritable units (genes)
Mendel documented a particulate mechanism through his experiments with garden peas
№6 слайд
![Mendel s Experimental,](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img5.jpg)
Содержание слайда: Mendel’s Experimental, Quantitative Approach
Advantages of pea plants for genetic study:
There are many varieties with distinct heritable features, or characters (such as flower color); character variants (such as purple or white flowers) are called traits
Mating of plants can be controlled
Each pea plant has sperm-producing organs (stamens) and egg-producing organs (carpels)
Cross-pollination (fertilization between different plants) can be achieved by dusting one plant with pollen from another
№10 слайд
![Mendel chose to track only](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img9.jpg)
Содержание слайда: Mendel chose to track only those characters that varied in an either-or manner
Mendel chose to track only those characters that varied in an either-or manner
He also used varieties that were true-breeding (plants that produce offspring of the same variety when they self-pollinate)
№11 слайд
![In a typical experiment,](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img10.jpg)
Содержание слайда: In a typical experiment, Mendel mated two contrasting, true-breeding varieties, a process called hybridization
In a typical experiment, Mendel mated two contrasting, true-breeding varieties, a process called hybridization
The true-breeding parents are the P generation
The hybrid offspring of the P generation are called the F1 generation
When F1 individuals self-pollinate, the F2 generation is produced
№12 слайд
![The Law of Segregation When](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img11.jpg)
Содержание слайда: The Law of Segregation
When Mendel crossed contrasting, true-breeding white and purple flowered pea plants, all of the F1 hybrids were purple
When Mendel crossed the F1 hybrids, many of the F2 plants had purple flowers, but some had white
Mendel discovered a ratio of about three to one, purple to white flowers, in the F2 generation
№16 слайд
![Mendel reasoned that only the](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img15.jpg)
Содержание слайда: Mendel reasoned that only the purple flower factor was affecting flower color in the F1 hybrids
Mendel reasoned that only the purple flower factor was affecting flower color in the F1 hybrids
Mendel called the purple flower color a dominant trait and the white flower color a recessive trait
Mendel observed the same pattern of inheritance in six other pea plant characters, each represented by two traits
What Mendel called a “heritable factor” is what we now call a gene
№19 слайд
![The first concept is that](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img18.jpg)
Содержание слайда: The first concept is that alternative versions of genes account for variations in inherited characters
The first concept is that alternative versions of genes account for variations in inherited characters
For example, the gene for flower color in pea plants exists in two versions, one for purple flowers and the other for white flowers
These alternative versions of a gene are now called alleles
Each gene resides at a specific locus on a specific chromosome
№21 слайд
![The second concept is that](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img20.jpg)
Содержание слайда: The second concept is that for each character an organism inherits two alleles, one from each parent
The second concept is that for each character an organism inherits two alleles, one from each parent
Mendel made this deduction without knowing about the role of chromosomes
The two alleles at a locus on a chromosome may be identical, as in the true-breeding plants of Mendel’s P generation
Alternatively, the two alleles at a locus may differ, as in the F1 hybrids
№22 слайд
![The third concept is that if](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img21.jpg)
Содержание слайда: The third concept is that if the two alleles at a locus differ, then one (the dominant allele) determines the organism’s appearance, and the other (the recessive allele) has no noticeable effect on appearance
The third concept is that if the two alleles at a locus differ, then one (the dominant allele) determines the organism’s appearance, and the other (the recessive allele) has no noticeable effect on appearance
In the flower-color example, the F1 plants had purple flowers because the allele for that trait is dominant
№23 слайд
![The fourth concept, now known](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img22.jpg)
Содержание слайда: The fourth concept, now known as the law of segregation, states that the two alleles for a heritable character separate (segregate) during gamete formation and end up in different gametes
The fourth concept, now known as the law of segregation, states that the two alleles for a heritable character separate (segregate) during gamete formation and end up in different gametes
Thus, an egg or a sperm gets only one of the two alleles that are present in the somatic cells of an organism
This segregation of alleles corresponds to the distribution of homologous chromosomes to different gametes in meiosis
№24 слайд
![Mendel s segregation model](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img23.jpg)
Содержание слайда: Mendel’s segregation model accounts for the 3:1 ratio he observed in the F2 generation of his numerous crosses
Mendel’s segregation model accounts for the 3:1 ratio he observed in the F2 generation of his numerous crosses
The possible combinations of sperm and egg can be shown using a Punnett square, a diagram for predicting the results of a genetic cross between individuals of known genetic makeup
A capital letter represents a dominant allele, and a lowercase letter represents a recessive allele
№28 слайд
![Useful Genetic Vocabulary An](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img27.jpg)
Содержание слайда: Useful Genetic Vocabulary
An organism with two identical alleles for a character is said to be homozygous for the gene controlling that character
An organism that has two different alleles for a gene is said to be heterozygous for the gene controlling that character
Unlike homozygotes, heterozygotes are not true-breeding
№29 слайд
![Because of the different](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img28.jpg)
Содержание слайда: Because of the different effects of dominant and recessive alleles, an organism’s traits do not always reveal its genetic composition
Because of the different effects of dominant and recessive alleles, an organism’s traits do not always reveal its genetic composition
Therefore, we distinguish between an organism’s phenotype, or physical appearance, and its genotype, or genetic makeup
In the example of flower color in pea plants, PP and Pp plants have the same phenotype (purple) but different genotypes
№31 слайд
![The Testcross How can we tell](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img30.jpg)
Содержание слайда: The Testcross
How can we tell the genotype of an individual with the dominant phenotype?
Such an individual must have one dominant allele, but the individual could be either homozygous dominant or heterozygous
The answer is to carry out a testcross: breeding the mystery individual with a homozygous recessive individual
If any offspring display the recessive phenotype, the mystery parent must be heterozygous
№35 слайд
![The Law of Independent](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img34.jpg)
Содержание слайда: The Law of Independent Assortment
Mendel derived the law of segregation by following a single character
The F1 offspring produced in this cross were monohybrids, individuals that are heterozygous for one character
A cross between such heterozygotes is called a monohybrid cross
№36 слайд
![Mendel identified his second](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img35.jpg)
Содержание слайда: Mendel identified his second law of inheritance by following two characters at the same time
Mendel identified his second law of inheritance by following two characters at the same time
Crossing two true-breeding parents differing in two characters produces dihybrids in the F1 generation, heterozygous for both characters
A dihybrid cross, a cross between F1 dihybrids, can determine whether two characters are transmitted to offspring as a package or independently
№40 слайд
![Using a dihybrid cross,](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img39.jpg)
Содержание слайда: Using a dihybrid cross, Mendel developed the law of independent assortment
Using a dihybrid cross, Mendel developed the law of independent assortment
The law of independent assortment states that each pair of alleles segregates independently of each other pair of alleles during gamete formation
Strictly speaking, this law applies only to genes on different, nonhomologous chromosomes
Genes located near each other on the same chromosome tend to be inherited together
№41 слайд
![Concept . The laws of](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img40.jpg)
Содержание слайда: Concept 14.2: The laws of probability govern Mendelian inheritance
Mendel’s laws of segregation and independent assortment reflect the rules of probability
When tossing a coin, the outcome of one toss has no impact on the outcome of the next toss
In the same way, the alleles of one gene segregate into gametes independently of another gene’s alleles
№42 слайд
![The Multiplication and](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img41.jpg)
Содержание слайда: The Multiplication and Addition Rules Applied to Monohybrid Crosses
The multiplication rule states that the probability that two or more independent events will occur together is the product of their individual probabilities
Probability in an F1 monohybrid cross can be determined using the multiplication rule
Segregation in a heterozygous plant is like flipping a coin: Each gamete has a chance of carrying the dominant allele and a chance of carrying the recessive allele
№44 слайд
![The rule of addition states](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img43.jpg)
Содержание слайда: The rule of addition states that the probability that any one of two or more exclusive events will occur is calculated by adding together their individual probabilities
The rule of addition states that the probability that any one of two or more exclusive events will occur is calculated by adding together their individual probabilities
The rule of addition can be used to figure out the probability that an F2 plant from a monohybrid cross will be heterozygous rather than homozygous
№45 слайд
![Solving Complex Genetics](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img44.jpg)
Содержание слайда: Solving Complex Genetics Problems with the Rules of Probability
We can apply the multiplication and addition rules to predict the outcome of crosses involving multiple characters
A dihybrid or other multicharacter cross is equivalent to two or more independent monohybrid crosses occurring simultaneously
In calculating the chances for various genotypes, each character is considered separately, and then the individual probabilities are multiplied together
№47 слайд
![Concept . Inheritance](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img46.jpg)
Содержание слайда: Concept 14.3: Inheritance patterns are often more complex than predicted by simple Mendelian genetics
The relationship between genotype and phenotype is rarely as simple as in the pea plant characters Mendel studied
Many heritable characters are not determined by only one gene with two alleles
However, the basic principles of segregation and independent assortment apply even to more complex patterns of inheritance
№48 слайд
![Extending Mendelian Genetics](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img47.jpg)
Содержание слайда: Extending Mendelian Genetics for a Single Gene
Inheritance of characters by a single gene may deviate from simple Mendelian patterns in the following situations:
When alleles are not completely dominant or recessive
When a gene has more than two alleles
When a gene produces multiple phenotypes
№49 слайд
![Degrees of Dominance Complete](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img48.jpg)
Содержание слайда: Degrees of Dominance
Complete dominance occurs when phenotypes of the heterozygote and dominant homozygote are identical
In incomplete dominance, the phenotype of F1 hybrids is somewhere between the phenotypes of the two parental varieties
In codominance, two dominant alleles affect the phenotype in separate, distinguishable ways
№53 слайд
![A dominant allele does not](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img52.jpg)
Содержание слайда: A dominant allele does not subdue a recessive allele; alleles don’t interact
A dominant allele does not subdue a recessive allele; alleles don’t interact
Alleles are simply variations in a gene’s nucleotide sequence
For any character, dominance/recessiveness relationships of alleles depend on the level at which we examine the phenotype
№54 слайд
![Tay-Sachs disease is fatal a](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img53.jpg)
Содержание слайда: Tay-Sachs disease is fatal; a dysfunctional enzyme causes an accumulation of lipids in the brain
Tay-Sachs disease is fatal; a dysfunctional enzyme causes an accumulation of lipids in the brain
At the organismal level, the allele is recessive
At the biochemical level, the phenotype (i.e., the enzyme activity level) is incompletely dominant
At the molecular level, the alleles are codominant
№56 слайд
![The allele for this unusual](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img55.jpg)
Содержание слайда: The allele for this unusual trait is dominant to the allele for the more common trait of five digits per appendage
The allele for this unusual trait is dominant to the allele for the more common trait of five digits per appendage
In this example, the recessive allele is far more prevalent than the population’s dominant allele
№57 слайд
![Multiple Alleles Most genes](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img56.jpg)
Содержание слайда: Multiple Alleles
Most genes exist in populations in more than two allelic forms
For example, the four phenotypes of the ABO blood group in humans are determined by three alleles for the enzyme (I) that attaches A or B carbohydrates to red blood cells: IA, IB, and i.
The enzyme encoded by the IA allele adds the A carbohydrate, whereas the enzyme encoded by the IB allele adds the B carbohydrate; the enzyme encoded by the i allele adds neither
№61 слайд
![Epistasis In epistasis, a](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img60.jpg)
Содержание слайда: Epistasis
In epistasis, a gene at one locus alters the phenotypic expression of a gene at a second locus
For example, in mice and many other mammals, coat color depends on two genes
One gene determines the pigment color (with alleles B for black and b for brown)
The other gene (with alleles C for color and c for no color) determines whether the pigment will be deposited in the hair
№63 слайд
![Polygenic Inheritance](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img62.jpg)
Содержание слайда: Polygenic Inheritance
Quantitative characters are those that vary in the population along a continuum
Quantitative variation usually indicates polygenic inheritance, an additive effect of two or more genes on a single phenotype
Skin color in humans is an example of polygenic inheritance
№65 слайд
![Nature and Nurture The](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img64.jpg)
Содержание слайда: Nature and Nurture: The Environmental Impact on Phenotype
Another departure from Mendelian genetics arises when the phenotype for a character depends on environment as well as genotype
The norm of reaction is the phenotypic range of a genotype influenced by the environment
For example, hydrangea flowers of the same genotype range from blue-violet to pink, depending on soil acidity
№69 слайд
![Concept . Many human traits](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img68.jpg)
Содержание слайда: Concept 14.4: Many human traits follow Mendelian patterns of inheritance
Humans are not good subjects for genetic research
– Generation time is too long
– Parents produce relatively few offspring
– Breeding experiments are unacceptable
However, basic Mendelian genetics endures as the foundation of human genetics
№77 слайд
![The Behavior of Recessive](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img76.jpg)
Содержание слайда: The Behavior of Recessive Alleles
Recessively inherited disorders show up only in individuals homozygous for the allele
Carriers are heterozygous individuals who carry the recessive allele but are phenotypically normal (i.e., pigmented)
Albinism is a recessive condition characterized by a lack of pigmentation in skin and hair
№79 слайд
![If a recessive allele that](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img78.jpg)
Содержание слайда: If a recessive allele that causes a disease is rare, then the chance of two carriers meeting and mating is low
If a recessive allele that causes a disease is rare, then the chance of two carriers meeting and mating is low
Consanguineous matings (i.e., matings between close relatives) increase the chance of mating between two carriers of the same rare allele
Most societies and cultures have laws or taboos against marriages between close relatives
№80 слайд
![Cystic Fibrosis Cystic](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img79.jpg)
Содержание слайда: Cystic Fibrosis
Cystic fibrosis is the most common lethal genetic disease in the United States,striking one out of every 2,500 people of European descent
The cystic fibrosis allele results in defective or absent chloride transport channels in plasma membranes
Symptoms include mucus buildup in some internal organs and abnormal absorption of nutrients in the small intestine
№89 слайд
![Fetal Testing In](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img88.jpg)
Содержание слайда: Fetal Testing
In amniocentesis, the liquid that bathes the fetus is removed and tested
In chorionic villus sampling (CVS), a sample of the placenta is removed and tested
Other techniques, such as ultrasound and fetoscopy, allow fetal health to be assessed visually in utero
№104 слайд
![You should now be able to](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img103.jpg)
Содержание слайда: You should now be able to:
Define the following terms: true breeding, hybridization, monohybrid cross, P generation, F1 generation, F2 generation
Distinguish between the following pairs of terms: dominant and recessive; heterozygous and homozygous; genotype and phenotype
Use a Punnett square to predict the results of a cross and to state the phenotypic and genotypic ratios of the F2 generation
№105 слайд
![Explain how phenotypic](/documents_6/df8c39b4d6a0bf4b99117bac55e9ddf4/img104.jpg)
Содержание слайда: Explain how phenotypic expression in the heterozygote differs with complete dominance, incomplete dominance, and codominance
Explain how phenotypic expression in the heterozygote differs with complete dominance, incomplete dominance, and codominance
Define and give examples of pleiotropy and epistasis
Explain why lethal dominant genes are much rarer than lethal recessive genes
Explain how carrier recognition, fetal testing, and newborn screening can be used in genetic screening and counseling
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