Lecture

Achondroplasia: Genetic Inheritance

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In course

BIO-109: Introduction to life sciences (for IC)

Ce cours présente les principes fondamentaux à l'œuvre dans les organismes vivants. Autant que possible, l'accent est mis sur les contributions de l'Informatique aux progrès des Sciences de la Vie. ...

Description

This lecture covers the genetic transmission of achondroplasia, a form of dwarfism, through autosomal dominant inheritance and incomplete dominance. It explains the probabilities of having an affected child and the role of de novo mutations in the condition.

Instructor

Romain Zufferey

Teaching & PhD Courses Biology for engineers MSE-212 This course consists of an introduction to biology and more particularly to biology as a multidisciplinary field, emphasizing natural examples of materials engineering. It should therefore allow engineering students to find inspiration from biology in future materials research problems. Cellular biology and biochemistry for engineers BIO-105 Basic course in biochemistry as well as cellular and molecular biology for non-life

Official source

Related concepts (30)

Dominance (genetics)

In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (de novo) or inherited.

Heredity

Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents.

Phenotypic trait

A phenotypic trait, simply trait, or character state is a distinct variant of a phenotypic characteristic of an organism; it may be either inherited or determined environmentally, but typically occurs as a combination of the two. For example, having eye color is a character of an organism, while blue, brown and hazel versions of eye colour are traits. The term trait is generally used in genetics, often to describe phenotypic expression of different combinations of alleles in different individual organisms within a single population, such as the famous purple vs.

Genetics

Genetics is the study of genes, genetic variation, and heredity in organisms. It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance".

De novo gene birth

De novo gene birth is the process by which new genes evolve from DNA sequences that were ancestrally non-genic. De novo genes represent a subset of novel genes, and may be protein-coding or instead act as RNA genes. The processes that govern de novo gene birth are not well understood, although several models exist that describe possible mechanisms by which de novo gene birth may occur. Although de novo gene birth may have occurred at any point in an organism's evolutionary history, ancient de novo gene birth events are difficult to detect.

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