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Inheritance
Patterns and
Mendelian
Inheritance
Mendel’s Experiments and the Laws of Probability
Characteristics and Traits
Laws of Inheritance
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Inheritance Patterns and Mendelian Inheritance > Mendel’s Experiments and the Laws of Probability
Mendel’s Experiments and the Laws of Probability
• Introduction to Mendelian Inheritance
• Mendel’s Model System
• Mendelian Crosses
• Garden Pea Characteristics Revealed the Basics of Heredity
• Rules of Probability for Mendelian Inheritance
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Inheritance Patterns and Mendelian Inheritance > Characteristics and Traits
Characteristics and Traits
• Phenotypes and Genotypes
• The Punnett Square Approach for a Monohybrid Cross
• Alternatives to Dominance and Recessiveness
• Sex-Linked Traits
• Lethal Inheritance Patterns
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Inheritance Patterns and Mendelian Inheritance > Laws of Inheritance
Laws of Inheritance
• Genes as the Unit of Heredity
• Mendel's Law of Dominance
• Mendel's Law of Segregation
• Mendel's Law of Independent Assortment
• Genetic Linkage and Violation of the Law of Independent Assortment
• Epistasis
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Appendix
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Inheritance Patterns and Mendelian Inheritance
Key terms
• allele one of a number of alternative forms of the same gene occupying a given position on a chromosome
• carrier A person or animal that transmits a disease to others without itself contracting the disease.
• chromosome a structure in the cell nucleus that contains DNA, histone protein, and other structural proteins
• codominance a condition in which both alleles of a gene pair in a heterozygote are fully expressed, with neither one being
dominant or recessive to the other
• dominant a relationship between alleles of a gene, in which one allele masks the expression (phenotype) of another allele at the
same locus
• dominant a relationship between alleles of a gene, in which one allele masks the expression (phenotype) of another allele at the
same locus
• dominant lethal an inheritance pattern is one in which an allele is lethal both in the homozygote and the heterozygote; this allele
can only be transmitted if the lethality phenotype occurs after reproductive age
• epistasis the modification of the expression of a gene by another unrelated one
• filial of a generation or generations descending from a specific previous one
• gene a unit of heredity; the functional units of chromosomes that determine specific characteristics by coding for specific
proteins
• genetics the branch of biology that deals with the transmission and variation of inherited characteristics, in particular
chromosomes and DNA
• genetics The branch of biology that deals with the transmission and variation of inherited characteristics, in particular
chromosomes and DNA.
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Inheritance Patterns and Mendelian Inheritance
• genotype the combination of alleles, situated on corresponding chromosomes, that determines a specific trait of an individual,
such as "Aa" or "aa"
• genotype the specific genetic information of a cell or organism, usually a description of the allele or alleles relating to a specific
gene.
• hemizygous Having some single copies of genes in an otherwise diploid cell or organism.
• heterozygous of an organism which has two different alleles of a given gene
• homozygous of an organism in which both copies of a given gene have the same allele
• hybrid offspring resulting from cross-breeding different entities, e.g. two different species or two purebred parent strains
• incomplete dominance a condition in which the phenotype of the heterozygous genotype is distinct from and often intermediate
to the phenotypes of the homozygous genotypes
• independent assortment separate genes for separate traits are passed independently of one another from parents to offspring
• law of segregation a diploid individual possesses a pair of alleles for any particular trait and each parent passes one of these
randomly to its offspring
• linkage the property of genes of being inherited together
• monohybrid a hybrid between two species that only have a difference of one gene
• mutation any heritable change of the base-pair sequence of genetic material
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Inheritance Patterns and Mendelian Inheritance
• parental of the generation of organisms that produce a hybrid
• phenotype the appearance of an organism based on a multifactorial combination of genetic traits and environmental factors,
especially used in pedigrees
• phenotype the observable characteristics of an organism, often resulting from its genetic information or a combination of
genetic information and environmental factors
• probability a number, between 0 and 1, expressing the precise likelihood of an event happening
• product rule the probability of two independent events occurring together can be calculated by multiplying the individual
probabilities of each event occurring alone
• Punnett square a graphical representation used to determine the probability of an offspring expressing a particular genotype
• recessive able to be covered up by a dominant trait
• recessive able to be covered up by a dominant trait
• recessive lethal an inheritance pattern in which an allele is only lethal in the homozygous form and in which the heterozygote
may be normal or have some altered non-lethal phenotype
• recombination the formation of genetic combinations in offspring that are not present in the parents
• sex chromosomes A chromosome involved with determining the sex of an organism, typically one of two kinds.
• sum rule the probability of the occurrence of one event or the other event, of two mutually exclusive events, is the sum of their
individual probabilities
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Inheritance Patterns and Mendelian Inheritance
• true-breeding plant a plant that always produces offspring of the same phenotype when self-fertilized; one that is homozygous
for the trait being followed.
• X-linked Associated with the X chromosome.
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Inheritance Patterns and Mendelian Inheritance
Human male karyotype
A human males possesses XY chromosomes, as seen in the bottom left of this karyotype. The Y chromosome is much shorter than the X chromosome,
unlike all of the other homologous chromosome pairs.
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Inheritance Patterns and Mendelian Inheritance
Appearance and genetic makeup of garden pea plant flowers
Based on Mendel's experiments, the genotype of the pea flowers could be determined from the phenotypes of the flowers.
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Inheritance Patterns and Mendelian Inheritance
Gregor Mendel
Gregor Johann Mendel was a German-speaking Moravian scientist and Augustinian friar who gained posthumous fame as the founder of the modern
science of genetics.
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Inheritance Patterns and Mendelian Inheritance
Independent assortment of 3 genes
The forked-line method can be used to analyze a trihybrid cross. Here, the probability for color in the F2 generation occupies the top row (3 yellow:1
green). The probability for shape occupies the second row (3 round:1 wrinked), and the probability for height occupies the third row (3 tall:1 dwarf). The
probability for each possible combination of traits is calculated by multiplying the probability for each individual trait. Thus, the probability of F2 offspring
having yellow, round, and tall traits is 3 × 3 × 3, or 27.
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Inheritance Patterns and Mendelian Inheritance
Unlinked genes assort independently
This figure shows all possible combinations of offspring resulting from a dihybrid cross of pea plants that are heterozygous for the tall/dwarf and
inflated/constricted alleles.
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Inheritance Patterns and Mendelian Inheritance
Punnett square analysis of a monohytbrid cross
In the P generation, pea plants that are true-breeding for the dominant yellow phenotype are crossed with plants with the recessive green phenotype.
This cross produces F1 heterozygotes with a yellow phenotype. Punnett square analysis can be used to predict the genotypes of the F2 generation.
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Inheritance Patterns and Mendelian Inheritance
Example of incomplete dominance
These pink flowers of a heterozygote snapdragon result from incomplete dominance.
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Inheritance Patterns and Mendelian Inheritance
Example of multiple alleles for rabbit coat color
Four different alleles exist for the rabbit coat color (C) gene.
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Inheritance Patterns and Mendelian Inheritance
Effects of Huntington's disease on neurons
The neuron in the center of this micrograph (yellow) has nuclear inclusions characteristic of Huntington's disease (orange area in the center of the
neuron). Huntington's disease occurs when an abnormal dominant allele for the Huntington gene is present.
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Inheritance Patterns and Mendelian Inheritance
Epistasis in mouse coat color
In mice, the mottled agouti coat color (A) is dominant to a solid coloration, such as black or gray. A gene at a separate locus (C) is responsible for
pigment production. The recessive c allele does not produce pigmentnand a mouse with the homozygous recessive cc genotype is albino regardless of
the allele present at the A locus. Thus, the C gene is epistatic to the A gene.
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Inheritance Patterns and Mendelian Inheritance
Gene pairs enable genetic combinations
A child will inherit half of its genes (one of each of its 23 pairs) from its mother and the other half from its father.
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Inheritance Patterns and Mendelian Inheritance
The Law of Segregation states that alleles segregate randomly into gametes
When gametes are formed, each allele of one parent segregates randomly into the gametes, such that half of the parent's gametes carry each allele.
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Inheritance Patterns and Mendelian Inheritance
Mendel's Experiments With Peas
Experimenting with thousands of garden peas, Mendel uncovered the fundamentals of genetics.
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Inheritance Patterns and Mendelian Inheritance
Results of Mendel's Garden Pea Hybridizations
Mendel conducted thousands of experiments and found the same ratios of offspring every time, regardless of which trait he examined.
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Inheritance Patterns and Mendelian Inheritance
Independent assortment of 2 genes
This dihybrid cross of pea plants involves the genes for seed color and texture.
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Inheritance Patterns and Mendelian Inheritance
Eye color in Drosophila is an example of a X-linked trait
In Drosophila, the gene for eye color is located on the X chromosome. Clockwise from top left are brown, cinnabar, sepia, vermilion, white, and red. Red
eye color is wild-type and is dominant to white eye color.
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Inheritance Patterns and Mendelian Inheritance
Inheritance of a recessive X-linked disorder
The son of a woman who is a carrier of a recessive X-linked disorder will have a 50 percent chance of being affected. A daughter will not be affected, but
she will have a 50 percent chance of being a carrier like her mother.
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Inheritance Patterns and Mendelian Inheritance
Recessive traits are only visible if an individual inherits two copies of the recessive allele
The child in the photo expresses albinism, a recessive trait.
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Inheritance Patterns and Mendelian Inheritance
Example of a test cross
A test cross can be performed to determine whether an organism expressing a dominant trait is a homozygote or a heterozygote.
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Inheritance Patterns and Mendelian Inheritance
Punnett square analysis of Drosophila eye color
Punnett square analysis is used to determine the ratio of offspring from a cross between a red-eyed male fruit fly (XWY) and a white-eyed female fruit fly
(XwXw).
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Inheritance Patterns and Mendelian Inheritance
Mendelian crosses
In one of his experiments on inheritance patterns, Mendel crossed plants that were true-breeding for violet flower color with plants true-breeding for white
flower color (the P generation). The resulting hybrids in the F1 generation all had violet flowers. In the F2 generation, approximately three-quarters of the
plants had violet flowers, and one-quarter had white flowers.
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Inheritance Patterns and Mendelian Inheritance
Role of probability in segregation of alleles and fertilization
In a genetic cross, the probability of the dominant trait being expressed is dependent upon its frequency. In this case, both parents possessed a
dominant and a recessive gene for the trait of flower color. The dominant trait is expressed in 3/4 of the offspring and the recessive trait is expressed in
1/4.
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Inheritance Patterns and Mendelian Inheritance
Mendelian Crosses
In one of his experiments on inheritance patterns, Mendel crossed plants that were true-breeding for violet flower color with plants true-breeding for white
flower color (the P generation). The resulting hybrids in the F1 generation all had violet flowers. In the F2 generation, approximately three-quarters of the
plants had violet flowers, while one-quarter had white flowers.
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Inheritance Patterns and Mendelian Inheritance
Example of a mutant allele interfering with the function of a wild-type gene
As seen in comparing the wild-type Drosophila (left) and the Antennapedia mutant (right), the Antennapedia mutant has legs on its head in place of
antennae.
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Inheritance Patterns and Mendelian Inheritance
Linked genes can be separated by recombination
The process of crossover, or recombination, occurs when two homologous chromosomes align during meiosis and exchange a segment of genetic
material. Here, the alleles for gene C were exchanged. The result is two recombinant and two non-recombinant chromosomes.
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Inheritance Patterns and Mendelian Inheritance
Color perception in different types of color blindness
In this chart you can see what people with different types of color blindness can see versus the normal color vision line at top.
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Inheritance Patterns and Mendelian Inheritance
Attribution
• OpenStax CNX. "Mapping Genomes." CC BY-SA 3.0 http://cnx.org/contents/[email protected]:Qq6Y1A16@5/MappingGenomes
• Wikipedia. "Gregor Mendel." CC BY-SA 3.0 https://en.wikipedia.org/wiki/Gregor_Mendel
• Wiktionary. "genetics." CC BY-SA 3.0 http://en.wiktionary.org/wiki/genetics
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44474/latest/?collection=col11448/latest
• Wiktionary. "genotype." CC BY-SA 3.0 http://en.wiktionary.org/wiki/genotype
• Wiktionary. "phenotype." CC BY-SA 3.0 http://en.wiktionary.org/wiki/phenotype
• Wikipedia. "true-breeding." CC BY-SA 3.0 http://en.wikipedia.org/wiki/true-breeding
• Wikibooks. "Human Physiology/Genetics and inheritance." CC BY-SA 3.0
http://en.wikibooks.org/wiki/Human_Physiology/Genetics_and_inheritance
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44476/latest/?collection=col11448/latest
• Wiktionary. "parental." CC BY-SA 3.0 http://en.wiktionary.org/wiki/parental
• Wiktionary. "filial." CC BY-SA 3.0 http://en.wiktionary.org/wiki/filial
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44476/latest/?collection=col11448/latest
• Wiktionary. "hybrid." CC BY-SA 3.0 http://en.wiktionary.org/wiki/hybrid
• Wiktionary. "recessive." CC BY-SA 3.0 http://en.wiktionary.org/wiki/recessive
• Wikipedia. "dominant." CC BY-SA 3.0 http://en.wikipedia.org/wiki/dominant
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44476/latest/?collection=col11448/latest
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• Boundless Learning. "Boundless." CC BY-SA 3.0 http://www.boundless.com//biology/definition/product-rule
• Wiktionary. "probability." CC BY-SA 3.0 http://en.wiktionary.org/wiki/probability
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44476/latest/?collection=col11448/latest
• Wiktionary. "genotype." CC BY-SA 3.0 http://en.wiktionary.org/wiki/genotype
• Wiktionary. "phenotype." CC BY-SA 3.0 http://en.wiktionary.org/wiki/phenotype
• OpenStax CNX. "OpenStax College, Biology. November 1, 2013." CC BY 3.0
http://cnx.org/content/m44476/latest/?collection=col11448/latest
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44478/latest/?collection=col11448/latest
• Wiktionary. "heterozygous." CC BY-SA 3.0 http://en.wiktionary.org/wiki/heterozygous
• Wiktionary. "homozygous." CC BY-SA 3.0 http://en.wiktionary.org/wiki/homozygous
• Wiktionary. "monohybrid." CC BY-SA 3.0 http://en.wiktionary.org/wiki/monohybrid
• Wiktionary. "Punnett square." CC BY-SA 3.0 http://en.wiktionary.org/wiki/Punnett+square
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44478/latest/?collection=col11448/latest
• Wiktionary. "codominance." CC BY-SA 3.0 http://en.wiktionary.org/wiki/codominance
• Wikipedia. "Incomplete dominance." CC BY-SA 3.0
http://en.wikipedia.org/wiki/Incomplete_dominance%23Incomplete_and_semi-dominance
• Wiktionary. "allele." CC BY-SA 3.0 http://en.wiktionary.org/wiki/allele
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44478/latest/?collection=col11448/latest
• Wikipedia. "Sex-determination systems." CC BY-SA https://en.wikipedia.org/wiki/Sex-determination_system
• Wiktionary. "carrier." CC BY-SA 3.0 http://en.wiktionary.org/wiki/carrier
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• Wiktionary. "hemizygous." CC BY-SA 3.0 http://en.wiktionary.org/wiki/hemizygous
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44478/latest/?collection=col11448/latest
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• Boundless Learning. "Boundless." CC BY-SA 3.0 http://www.boundless.com//biology/definition/recessive-lethal
• Wiktionary. "mutation." CC BY-SA 3.0 http://en.wiktionary.org/wiki/mutation
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44478/latest/?collection=col11448/latest
• Wiktionary. "genetics." CC BY-SA 3.0 http://en.wiktionary.org/wiki/genetics
• Wiktionary. "chromosome." CC BY-SA 3.0 http://en.wiktionary.org/wiki/chromosome
• Wiktionary. "gene." CC BY-SA 3.0 http://en.wiktionary.org/wiki/gene
• Wikibooks. "Human Physiology/Genetics and inheritance." CC BY-SA 3.0
http://en.wikibooks.org/wiki/Human_Physiology/Genetics_and_inheritance
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44479/latest/?collection=col11448/latest
• Wiktionary. "recessive." CC BY-SA 3.0 http://en.wiktionary.org/wiki/recessive
• Wikipedia. "dominant." CC BY-SA 3.0 http://en.wikipedia.org/wiki/dominant
• Wikipedia. "Dominance (genetics)." CC BY-SA 3.0 http://en.wikipedia.org/wiki/Dominance_(genetics)
• Wikipedia. "Recessive." CC BY-SA 3.0 http://en.wikipedia.org/wiki/Recessive
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44479/latest/?collection=col11448/latest
• Wikipedia. "law of segregation." CC BY-SA 3.0 http://en.wikipedia.org/wiki/law%20of%20segregation
• Wikibooks. "Structural Biochemistry/Foundation of Genetics." CC BY-SA 3.0
http://en.wikibooks.org/wiki/Structural_Biochemistry/Foundation_of_Genetics
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Inheritance Patterns and Mendelian Inheritance
• Wikipedia. "independent assortment." CC BY-SA 3.0 http://en.wikipedia.org/wiki/independent%20assortment
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44479/latest/?collection=col11448/latest
• Wiktionary. "recombination." CC BY-SA 3.0 http://en.wiktionary.org/wiki/recombination
• Wiktionary. "linkage." CC BY-SA 3.0 http://en.wiktionary.org/wiki/linkage
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44479/latest/?collection=col11448/latest
• Wiktionary. "epistasis." CC BY-SA 3.0 http://en.wiktionary.org/wiki/epistasis
• OpenStax CNX. "OpenStax College, Biology. October 16, 2013." CC BY 3.0
http://cnx.org/content/m44479/latest/?collection=col11448/latest
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