Name: inheritance risk with sum and product rules
Uploaded: 2019-03-11T09:21:16.000Z
Duration: 1 min 49 s
Channel: JoVE

K12 Standards

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North Carolina K-12 Science Standard Course of Study

9-12

Biology

heredity-inheritance-and-variation-of-traits

Heredity- Inheritance and Variation of Traits

LS.Bio.7.2

Probability Laws

- [Narrador] La suma y las
probabilidades del producto

sirven para definir la
tendencia de alguien

de presentar un rasgo.

Por ejemplo, si el árbol
genealógico de una mujer embarazada

muestra una enfermedad, como
la deficiencia de biotinidasa,

la posibilidad de que ella
o sus padres puedan tener

el alelo de la deficiencia
de biotinidasa recesiva

determina el riesgo de que
su hijo tenga ese trastorno.

Aquí el linaje de la mujer
muestra a un hermano afectado

pero padres sin afectar que
tienen que ser heterocigóticos.

El cuadro de Punnet dice que
la mujer puede ser homocigota

del alelo normal o haber heredado

el alelo de la enfermedad de sus padres.

Se descarta la opción
del homocigoto recesivo.

Desde aquí hay dos formas
de que ella sea portadora,

ambas con una probabilidad
de uno cada tres,

la suma de las probabilidades
es la tendencia

a ser heterocigótico, la regla de la suma.

En cambio, la probabilidad
del padre es de una en 120,

ya que esta es la probabilidad
de una persona al azar

de ser heterocigótico.

Los futuros padres deben ser portadores,

con probabilidades de uno
cada tres y de uno cada 120

y transmitir el alelo de la enfermedad,

con probabilidades de uno cada cuatro,

así que la posibilidad de que
su hijo tenga la deficiencia

de biotinidasa es el resultado
de esas posibilidades,

aproximadamente 0,14 %.
La regla del producto.

Esta es la probabilidad teórica calculada

aunque algunas parejas
podrían solo tener niños

con la deficiencia de la biotinidasa,

una observación empírica de
probabilidades del 100 %.

Sin embargo, si se
estudiaran muchos linajes,

estas probabilidades coincidirían.

Griffiths, Anthony J.F., Jeffrey H. Miller, David T. Suzuki, Richard C. Lewontin y William M. Gelbart. 2000. "Uso de proporciones genéticas". En Una introducción al análisis genético. 7ª ed. Nueva York: W. H. Freeman and Company. [<a href="https://www.ncbi.nlm.nih.gov/books/NBK21812/" target="__blank">Fuente</a>]

leyes de probabilidad

<h4>Descripción general</h4> La probabilidad de heredar un rasgo se puede calcular utilizando las reglas de la suma y el producto. La regla de la suma se utiliza para calcular la probabilidad de eventos mutuamente excluyentes. La regla del producto predice la probabilidad de múltiples eventos independientes. Estas reglas de probabilidad determinan la probabilidad teórica,la probabilidad de que los eventos ocurran antes de que sucedan. La probabilidad empírica, por el contrario, se calcula basándose en eventos que ya han ocurrido. <h4>Se aprovechan las reglas de suma y producto para calcular las probabilidades de herencia.</h4> Aunque los cuadrados de Punnett son útiles para visualizar la herencia de uno o dos rasgos, resultan engorrosos cuando se aplican a escenarios más complejos. Un cuadrado de Punnett que muestra sólo tres rasgos contiene 64 cruces posibles. Las leyes de probabilidad permiten cálculos mucho más eficientes de las probabilidades de herencia de rasgos. Considere el caso de una mujer embarazada que quiere comprender el riesgo de que su hijo herede la deficiencia de biotinidasa (BTD), una enfermedad autosómica recesiva hereditaria. Los bebés con BTD no tratados presentan retrasos en el desarrollo, tono muscular deficiente, erupciones cutáneas y caída del cabello. Los casos graves se asocian con convulsiones y pérdida de visión y audición, entre otros síntomas. Ni la mujer ni sus padres tienen BTD, pero su hermano está afectado, lo que significa que ambos padres deben tener una variante genética causal (es decir, ambos padres son heterocigotos o portadores). La probabilidad de que el hijo de la mujer herede BTD depende de si la mujer es portadora y posee un alelo causal. Dado que BTD es autosómica recesiva y no está afectada, no puede tener dos alelos causales. Sin embargo, es posible que sea portadora de un alelo causal que podría transmitirse a su hijo. El primer paso para determinar el riesgo del niño es determinar la probabilidad de que la madre sea portadora. Esto se logra utilizando la regla de la suma de probabilidades. La regla de la suma establece que la probabilidad de eventos mutuamente excluyentes es la suma de sus probabilidades individuales. En este caso, los eventos mutuamente excluyentes son posibles combinaciones de alelos parentales que la mujer embarazada puede haber heredado. Dado que sus padres son heterocigotos (genotipo Bb genotype), ella tiene uno de cuatro genotipos posibles: B paterno y B materno (BB), B paterno y b materno (Bb), B materno y b paterno (Bb), o b paterno y materno b (bb). Como no tiene BTD, se puede descartar el genotipo bb . Por tanto, hay tres genotipos posibles con probabilidades iguales de 1/3, y dos de ellos resultan ser portadores (Bb). Por tanto, según la regla de la suma, su probabilidad de ser portadora es 2/3 (1/3 + 1/3). Otro factor crítico en el riesgo de BTD del niño es la probabilidad del padre de ser portador. Aquí entra en juego la regla del producto. La regla del producto establece que la probabilidad de múltiples eventos independientes es el producto de las probabilidades individuales de los eventos. Si la madre es portadora, esto no influye en que el padre sea portador. Por tanto, son eventos independientes. Para que el niño herede BTD, deben ocurrir múltiples eventos independientes. En primer lugar, la madre debe ser portadora (2/3 de probabilidad). En segundo lugar, el padre debe ser portador. Si el padre no está afectado y no tiene antecedentes familiares de BTD, su probabilidad de ser portador se considera equivalente a la de la población general (1/120). En tercer lugar, el niño debe heredar el alelo recesivo de ambos padres (1/4 de probabilidad si ambos padres son portadores). Según la regla del producto, el riesgo del niño de heredar BTD es el producto de cada una de estas probabilidades: (2/3) x (1/120) x (1/4) = 0,0014, o aproximadamente 0,14%. <h4>Las probabilidades teóricas y empíricas se calculan respectivamente antes y después de los eventos.</h4> El riesgo del 0,14% de BTD del niño, una predicción calculada antes del nacimiento, es una probabilidad teórica. Sin embargo, es posible que el niño y sus hermanos hereden BTD, lo que representa una probabilidad empírica del 100%. A diferencia de las probabilidades teóricas, que se calculan antes de que ocurran los eventos, las probabilidades empíricas se basan en observaciones. Al analizar genealogías individuales, las probabilidades teóricas y empíricas pueden ser muy diferentes. Sin embargo, a medida que se analizan más genealogías, las probabilidades teóricas y empíricas se alinean cada vez más.

Leyes de probabilidad

Visión general

La probabilidad de heredar un rasgo se puede calcular utilizando las reglas de suma y producto. La regla de la suma se utiliza para calcular la probabilidad de ...

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JoVE Core

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Genetics

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KEY TERMS AND CONCEPTS

TÉRMINOS Y CONCEPTOS CLAVE

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 genetics because Punnett squares can become too large for complex crosses. A Punnett square for three traits already has 64 possible crosses. Probability laws make it easier to estimate how a trait may be inherited. They can also be used to follow the chance of an autosomal recessive disease such as biotinidase deficiency, or BTD.

BTD can cause developmental delays, poor muscle tone, skin rashes, and hair loss if it is not treated. Severe cases can also involve seizures and loss of vision and hearing. In the example from the transcript, a pregnant woman is trying to estimate her child’s risk because her brother has BTD. Since her parents do not have the disease but have an affected child, both parents must be carriers, which means they are heterozygotes with one causal gene variant.

The first step is to find the woman’s chance of being a carrier. Because BTD is autosomal recessive and she is unaffected, she cannot have two causal alleles. Her possible genotypes from two carrier parents are BB, Bb, Bb, or bb. The bb genotype can be ruled out, so three outcomes remain, each with a probability of 1/3. Two of those outcomes make her a carrier, so the sum rule gives her a carrier probability of 2/3.

Next, the father’s carrier chance must be considered. If the father is unaffected and has no family history of BTD, his carrier probability is treated as the same as that of the general population, or 1/120. This step uses the product rule because the mother’s carrier status does not change the father’s carrier status. The child must inherit the recessive allele from both parents, which has a probability of 1/4 if both parents are carriers. Multiplying these values gives a BTD risk of about 0.14%.

That 0.14% estimate is a theoretical probability because it is calculated before birth. If a child or siblings actually inherit BTD, that is an empirical result because it is based on observation after the event. When only one pedigree is examined, theoretical and empirical probability may differ a lot. As more pedigrees are studied, the two values tend to become closer.

Inheritance Risk with Sum and Product Rules

genetic lingo

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,...

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 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 the sum rule and product rule help estimate inherited trait risk, including carrier probability and autosomal recessive disease examples like BTD.

Inheritance Risk with Sum and Product Rules | JoVE K12

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Minnesota Academic Standards in Science

Life Science

2.1.1 9L.2.1.1.1

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New Jersey Student Learning Standards for Science

High School

Heredity: Inheritance and Variation of Traits

HS-LS3-3

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9-12.B.3.11

Next Generation Science Standards

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Inheritance and Variation of Traits

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LS.Bio.7.1

Overview

A pedigree is a diagram displaying a family&#x2019;s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or ...

Overview

The probability of inheriting a trait can be calculated using the sum and product rules. The sum rule is used to calculate the probability of ...

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LS.Bio.8.1

Understand genetic mechanisms for variation.

Inheritance Risk with Sum and Product Rules

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