Name: genotype, phenotype, and inheritance
Uploaded: 2019-03-11T09:21:16.000Z
Duration: 1 min 11 s
Channel: JoVE

K12 Standards

Virginia  Standards of Learning

HIgh School

Life Science

LS.10

LS.10.c

Genetic Lingo

Allele sind verschiedene Formen desselben Gens.
 Eines wird von jedem Elternteil erhalten, was zu einem diploiden Organismus führt, zwei Allele am gleichen Ort für jedes beteiligte Gen.
 Jedes Paar ist als Genotyp eines bestimmten Gens bekannt, und die physikalische und beobachtbare Expression, der Phänotyp wie die Augenfarbe, wird durch die vererbte Kombination bestimmt.
 In diesem Fall enthält eines der Gene zwei Allele für die möglichen Farben Braun und Blau.
 Wenn beide Formen identisch sind, nennt man den Genotyp homozygot.
 Unterscheiden sich die Paare, ist der Genotyp heterozygot.
 Interessanterweise kann derselbe Phänotyp wie bei braunen Augen von verschiedenen Genotypen exprimiert werden.
 Dies liegt daran, dass das dominante Allel, braun, als Großbuchstabe dargestellt, über dem rezessiven Allel, blau, als Kleinbuchstabe dargestellt, ausgedrückt wird.
 Ein rezessives Allel kann also nur dann exprimiert werden, wenn beide Kopien rezessiv sind.

Fay, David und Andy Spencer. Dominante Mutationen. WormBook, 2006. [<a href="https://www.ncbi.nlm.nih.gov/books/NBK19699/" target="__blank">Source</a>].

genetisches jargon

<h4>Überblick</h4>
 
 Ein Organismus ist diploid, wenn er zwei Varianten oder Allele von jedem Gen erbt, und zwar eine von jedem Elternteil. Diese beiden Allele bilden den Genotyp für ein bestimmtes Gen. Der Begriff Genotyp wird auch verwendet, um den vollständigen Satz an Genen eines Organismus zu bezeichnen. Ein diploider Organismus mit zwei identischen Allelen hat einen homozygoten Genotyp, während zwei verschiedene Allele einen heterozygoten Genotyp ausmachen. Die durch die Genotypen bestimmten beobachtbaren Merkmale werden als Phänotypen bezeichnet, die auch durch Umweltfaktoren beeinflusst werden können. Ein Allel ist dominant, wenn nur eine Kopie zur Manifestation des assoziierten Phänotyps benötigt wird, und rezessiv, wenn zwei Kopien zur phänotypischen Expression benötigt werden.
 
 <h4>Allele können Phänotypen beeinflussen</h4>
 
 Diploide Organismen, zu denen auch der Mensch, die meisten Tiere und viele Pflanzen gehören, haben einen doppelten Chromosomensatz in ihren somatischen (nicht-geschlechtlichen) Zellen. Diese Chromosomenduplikate sind homolog, mit ähnlichen Längen, Zentromerpositionen und Genorten (Genlocus). Diploide Organismen erben zwei Versionen von jedem Gen, eine von jedem Elternteil. Diese beiden Genvarianten oder Allele befinden sich am gleichen relativen Locus bzw. an der gleichen Position der zwei homologen Chromosomen. Jedes Chromosom enthält viele genetische Loci, und oft gibt es mehrere mögliche Allele eines bestimmten Gens.
 
 Die beiden Allele, die ein diploider Organismus erbt, bilden seinen Genotyp am Locus. Der Begriff Genotyp bezieht sich auch auf den gesamten Satz an Genen eines Organismus. Verschiedene Genotypen können zu unterschiedlichen Phänotypen oder beobachtbaren Merkmalen (z.B. Augenfarbe) führen. Phänotypen entstehen als Folge von Genotypen, obwohl mehrere Genotypen den gleichen Phänotyp verursachen können. Phänotypen werden oft auch durch Umweltfaktoren beeinflusst.
 
 <h4>Ein Genotyp kann aus zwei identischen oder verschiedenen Allelen bestehen</h4>
 
 Für ein bestimmtes Gen können die beiden vererbten Allele entweder identische oder unterschiedliche Nucleotidsequenzen haben. Ein Organismus mit zwei identischen Allelen hat einen homozygoten Genotyp (oder ist ein Homozygote). Ein Organismus mit zwei verschiedenen Allelen hat einen heterozygoten Genotyp (ist also ein Heterozygote). Wenn die beiden Allele unterschiedlich sind (heterozygoter Genotyp), aber nur eines den Phänotyp beeinflusst, ist das Allel, das den Phänotyp beeinflusst, dominant. Das andere Allel, das den Phänotyp nicht beeinflusst, ist folglich rezessiv.
 
 Ursprünglich nahm man an, dass die Augenfarbe von einem einzigen Gen bestimmt wird. So wird sie oft verwendet, um die genetische Dominanz (braune Augen) und die Rezessivität (blaue Augen) zu veranschaulichen. Wissenschaftler entdeckten jedoch, dass mindestens acht Gene die Augenfarbe beeinflussen können. Obwohl das OCA2 Gen für fast drei Viertel der Variation im blau-braunen Augenfarbspektrum verantwortlich ist, modifizieren oder dominieren andere Gene gelegentlich diese Effekte. Dennoch kann die Augenfarbe ein nützliches Beispiel sein, um dominante und rezessive Allele zu veranschaulichen.
 
 Im Folgenden verwenden wir das vereinfachte Augenfarbenbeispiel, um den Zusammenhang zwischen Genotyp und Phänotyp zu veranschaulichen. Das Allel für braune Augen wird als B, und das Allel für blaue Augen als b bezeichnet. Eine Heterozygote hätte den Genotyp Bb als Ergebnis der Aufnahme eines dominanten Allels von einem Elternteil und eines rezessiven Allels von dem anderen. Dieses Individuum würde braune Augen haben, also den dominanten Phänotyp. Das dominante Allel (B) überschreibt oder verdeckt die Anweisungen des rezessiven Allels für blaue Augen. So würde ein Individuum mit blauen Augen den Genotyp bb haben, während ein Individuum mit braunen Augen entweder den Genotyp BB oder Bb haben könnte.
 
 <h4>Dominante und rezessive Vererbungsmuster von Krankheiten sind mit einem Krankheitsrisiko verbunden</h4>
 
 Obwohl die meisten Merkmale von mehreren Genen und nicht von einem einzigen kausalen Gen kontrolliert werden, können diese Prinzipien nützlich sein, um die Wahrscheinlichkeit wichtiger Resultate vorherzusagen. Zum Beispiel ist die Huntington-Krankheit (HD) ein progressiver, neurodegenerativer Zustand, der unkontrollierte Bewegungen sowie kognitive und emotionale Störungen verursacht. HD wird als eine einzelne Genstörung betrachtet, da sie durch eine Mutation in einem einzigen Gen (HTT) verursacht wird, obwohl andere Gene den Beginn und Verlauf beeinflussen. HD wird durch eine dominante Mutation verursacht, was bedeutet, dass ein einzelnes mutiertes Allel zum Auftreten der Krankheit führt. Wenn das Elternteil eine normale und eine mutierte Genvariante hat, hat der Nachwuchs eine 50%-ige Chance, das mutierte Allel ebenfalls zu erben und die Krankheit zu bekommen. HD manifestiert sich typischerweise auch erst im mittlerem bis spätem Lebensabschnitt. So kann sich eine Person mit einem betroffenen Elternteil, obwohl die Realität unangenehm ist, einem Gentest unterziehen, um festzustellen, ob sie das kausale Allel hat und somit eine eigene informierte Familienplanung zu haben.

Genetisches Jargon

Überblick

Ein Organismus ist diploid, wenn er zwei Varianten oder Allele jedes Gens erbt, eine von jedem Elternteil. Diese beiden Allele bilden den Genotyp ...

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Lehre

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Biology

Biologie

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Genetik

Classical and Modern Genetics

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KEY TERMS AND CONCEPTS

KERNBEGRIFFE UND KONZEPTE

genotype, phenotype, and inheritance

Genotype, phenotype, and inheritance help explain how traits and disease risk are passed from parents to offspring. In diploid organisms, including humans, most other animals, and many plants, somatic cells carry a duplicate set of chromosomes. These chromosome pairs are homologous, with similar length, centromere position, and gene locations.

Diploid organisms inherit two versions of each gene, one from each parent. These versions are called alleles, and they sit at the same relative locus, or position, on homologous chromosomes. The two alleles at a locus make up an organism’s genotype for that gene. Genotype can also mean the organism’s complete set of genes.

Different genotypes can produce different phenotypes, which are the observable traits of an organism. Eye color is one example. Phenotypes can also be shaped by environmental factors, and more than one genotype can sometimes lead to the same phenotype.

For a given gene, the two alleles may be identical or different. A homozygous genotype has two identical alleles. A heterozygous genotype has two different alleles. If a heterozygote shows the effect of only one allele, that allele is dominant, and the other is recessive.

Brown and blue eye color are often used to show dominance and recessiveness. In this simplified example, B stands for the brown-eye allele and b stands for the blue-eye allele. A person with Bb has brown eyes because the dominant B allele hides the blue-eye instructions from b. A person with blue eyes must have bb, while a person with brown eyes can have BB or Bb.

These same ideas also help explain disease inheritance. Huntington disease is a progressive neurodegenerative condition that can cause uncontrolled movements and changes in thinking and mood. It is a single-gene disorder caused by a mutation in the HTT gene, although other genes can affect when it starts and how it progresses. The mutation is dominant, so one mutated allele can cause the disease. If a parent has one normal allele and one mutated allele, each child has a 50% chance of inheriting the mutation. Because Huntington disease often appears in middle to late life, genetic testing can help affected families with planning.

Genotype, Phenotype, and Inheritance

genetic lingo

Genotype, phenotype, and inheritance help explain how traits and disease risk are passed from parents to offspring. In diploid organisms, including humans, most other animals, and many plants, somatic cells carry a duplicate set of chromosomes. These chromosome pairs are homologous, with similar length, centromere position, and gene locations. Diploid organisms inherit two versions of each gene, one from each parent. These versions are called alleles, and they sit at the same relative locus,...

punnett squares

Punnett Squares for Predicting Traits

Punnett squares help predict which traits offspring may inherit from two parents. They show possible genotypes, which are pairs of alleles, and can also show the chance of a phenotype, or visible trait, when the inheritance pattern is known. These grids work best for traits controlled by a single gene locus and passed on independently during meiosis. Punnett squares were developed in the early 1900s by Reginald Punnett. His work came after Gregor Mendel’s pea plant experiments revealed the...

monohybrid crosses

Mendel’s Pea Plant Inheritance Ratios

Gregor Mendel used pea plants to study how traits are passed from parents to offspring. His breeding experiments in the 1850s and 1860s showed that inheritance follows clear patterns. He crossed true-breeding plants that differed in one trait and found that dominant traits can hide recessive traits. Mendel focused on seven pea plant traits, and each trait had two forms controlled by a single gene locus. He noticed that true-breeding plants always produced offspring with the same phenotype, or...

dihybrid crosses

Mendel's Law of Independent Assortment

Mendel’s law of independent assortment explains how two traits can be inherited separately. Gregor Mendel tested this idea with pea plants that differed in two characteristics, such as pea color and pea shape. He used true-breeding parents that were homozygous for both traits but showed different phenotypes. In one example, Mendel crossed round, yellow peas with wrinkled, green peas. The parental generation had RRYY and rryy genotypes. Their first-generation offspring were all dihybrids,...

law of segregation

Mendel’s Pea Cross Ratios

Mendel’s pea plant crosses show how traits can disappear in one generation and return in the next. When he crossed plants, one parental trait sometimes seemed to vanish in the F1 generation and reappear in the F2 generation. Mendel used this pattern to explain why some traits are dominant and others are recessive. He proposed that traits are controlled by alleles, which are different versions of a gene. An organism inherits two copies of each gene, one from each parent. In his model, a...

law of independent assortment

Mendel’s Dihybrid Cross and Trait Ratios

Mendel’s dihybrid cross shows how two traits are inherited at the same time. A dihybrid cross is a cross in which both parents are homozygous for two distinct traits, and the F1 generation is heterozygous for both traits. Mendel used pea plants with round yellow peas and wrinkled green peas as an example. One parent had genotype YYRR, and the other had genotype yyrr. In the F1 generation, every plant showed the dominant traits, so the plants were YyRr and had yellow, round peas. The F2...

probability laws

Inheritance Risk with Sum and Product Rules

Inheritance risk can be calculated with the sum rule and the product rule. The sum rule applies to mutually exclusive events, or events that cannot happen at the same time. The product rule applies to independent events, or events that do not affect one another. These rules describe theoretical probability, which is the chance of an event before it happens. Empirical probability is different because it is based on events that have already occurred. These probability rules are useful in...

test cross

Using Test Crosses to Identify Genotypes

Test crosses are used to identify the genotype of an organism with a dominant trait. A genotype is the pair of alleles inherited for a gene, and alleles are different forms of the same gene. In diploid organisms, including humans, each gene usually has two alleles, one from each parent. An allele is recessive when its effect is hidden by another allele at the same gene location. Pea plants provide a clear example with flower color. White flowers are recessive, because one copy of the purple...

polygenic traits

Polygenic Traits in Human Height

Polygenic traits are traits controlled by more than one gene. Human height is a clear example of this kind of inheritance. Because many genes work together, the final trait can vary a lot from person to person. Researchers have found hundreds of loci, or gene locations, that influence height. There are likely many more that have not yet been identified. Many of these genes affect cartilage in the growth plates of the long bones in the arms and legs, either directly or indirectly. Height is...

pedigree analysis

Reading Family Traits in Pedigrees

Pedigrees are family trees used to track how a trait passes through generations. They help scientists and students see whether a trait is dominant or recessive, whether it is autosomal or sex-linked, what genotypes family members may have, and what phenotypes may appear in future generations. For families with a history of inherited disease, this information can be important for family planning. In plants and animals, inheritance is often studied with crosses. Monohybrid crosses can show...

multiple allele traits

Blood Type and Allele Interactions

Multiple alleles can shape traits through blood type, sickle cell anemia, incomplete dominance, and codominance. Multiple allelism means a gene has three or more allelic forms. Diploid organisms, including humans, usually carry only two alleles for each gene, but many human genes exist in multiple forms in the population. Human blood type is a clear example of multiple allelism. The blood type gene has three alleles: I A , I B , and i. These alleles help determine which blood type a person has...

epistasis

Gene Masking in Rabbit Fur Color

Epistasis describes how one gene can mask or change the effect of another gene. In high school genetics, this helps explain why many traits do not follow a simple single-gene pattern. Instead, alleles at different locations can work together to shape the final phenotype. Mendel studied seven unrelated pea traits, but most traits involve multiple gene interactions. Epistasis often happens when one gene interferes with the expression of another gene. It can also occur when genes are part of the...

nature and nurture

Genes and Environment Shape Height

Genes and environment both shape human height and other traits. Genes are the inherited instructions we get from our parents. Environment includes factors such as diet, stress, and social conditions. Many phenotypes, or observable traits, reflect both influences. Some also show up later in life, including cancer and other diseases. Height is a clear example of this interaction. Scientists estimate that 70-90% of height variation comes from genetic differences among people. The remaining 10-30%...

pleiotropy

SOX10 and Multiple Traits in Pleiotropy

Pleiotropy is when one gene affects more than one trait. The SOX10 gene is a clear example because it can influence pigmentation, hearing, and intestinal movement. These traits may seem unrelated, but they can all be linked to the same gene change. In humans, a deleted region in SOX10 can cause Waardenburg Syndrome Type 4, or WS4. WS4 is an autosomal recessive disorder, which means a person usually inherits two altered copies of the gene. Common signs include a white forelock,...

sex-linked disorders

X- and Y-Linked Disorder Patterns

X- and Y-linked disorders come from mutations in genes on the sex chromosomes. These genes, like those on autosomes, are needed for normal body function. When a mutation causes a biological problem, the condition is called sex-linked. Y-linked disorders come from changes in the Y chromosome. They affect only males, because only males carry a Y chromosome. Mutations in this small chromosome can affect male sexual function and secondary sex characteristics. One example is Y-chromosome...

x-linked traits

X-Linked Inheritance in Families

X-linked inheritance explains how traits on the X chromosome are passed through families. In most mammalian species, females have two X sex chromosomes, while males have one X and one Y. A mutation on one X chromosome may be masked in females by a normal allele on the other X. In males, that same mutation is more likely to show because there is no second normal X to balance it. Traits caused by changes on the X chromosome are called X-linked traits. Color blindness is a well-studied example.

x-inactivation

Barr Bodies and X-Chromosome Balance

Barr bodies and X-chromosome balance help explain how female mammalian cells control gene activity from the X chromosome. The human X chromosome carries far more genes than the Y chromosome. Because males usually have one X chromosome and females have two, females would make twice as many of some proteins without a control system. To prevent that imbalance, female mammalian cells inactivate nearly all the genes on one X chromosome during early embryonic development. The inactive X condenses...

non-nuclear inheritance

Maternal DNA in Mitochondria and Chloroplasts

Maternal DNA in mitochondria and chloroplasts explains how some genes are inherited outside the nucleus. Most DNA is in the nucleus, but mitochondria and chloroplasts in the cell cytoplasm also carry their own DNA and can copy it independently of nuclear DNA. Mitochondria are found in both plant and animal cells. They are called the powerhouses of eukaryotic cells because they break down glucose to make energy for cellular activity. Mitochondrial DNA has about 37 genes, and many help with...

chromosomal theory of inheritance

How Genes Map to Chromosomes

Genes map to chromosomes, and this idea explains how Mendel’s inheritance patterns work. Gregor Mendel published his pea plant breeding results in 1866. He showed that physical traits follow predictable patterns. At the time, scientists did not yet know that genes existed. Mendel used the word "factors" for the hereditary units he studied. The details behind Mendel’s laws of segregation and independent assortment were still unknown for many years. In the late 1800s, better microscopes and...

key terms and concepts

Learn how genotypes, alleles, dominant and recessive traits, and Huntington disease inheritance connect genes to visible traits and disease risk.

Genotype, Phenotype, and Inheritance | JoVE K12

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Die JoVE-Serie erweckt die Biologie durch über 300 prägnante und leicht verständliche animierte Video-Lektionen zum Leben, die Schlüsselkonzepte der Biologie erklären, sowie durch mehr als 150 Videos von Wissenschaftlern in der Praxis, die aktuelle Forschungsexperimente in den Labors von heute zeigen.

Next Generation Science Standards

High School

heredity-inheritance-and-variation-of-traits

Heredity: Inheritance and Variation of Traits

HS-LS3-1

Florida Department of Education

SC.912.L.16

SC.912.L.16.1

new-york-state-science-learning-standards

New York State Science Learning Standards

Inheritance and Variation of Traits

HS-LS3-1.

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LS.10.a

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LS.10.b

Overview

An organism is diploid if it inherits two variants, or alleles, of each gene, one from each parent. These two alleles constitute the genotype ...

Punnett Squares

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Dihybrid Crosses

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Law of Segregation

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Test Cross

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Overview

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The student will investigate and understand that organisms reproduce and transmit genetic information to new generations. Key ideas include Punnett squares are mathematical models used to predict the probability of traits in offspring.

Genotype, Phenotype, and Inheritance

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