Lecture

Genetic Dosage and Chromosome Abnormalities

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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 discusses the importance of genetic dosage, focusing on Trisomy 21 and its impact on protein concentration. It also covers the differences in protein production between men and women due to X chromosome inactivation, as well as the formation and significance of Barr bodies. The lecture further explores the genetic abnormalities associated with Triple X syndrome and the implications of such conditions on individuals, illustrated by the case of Ewa Klobukowska, an Olympic athlete. Various genetic concepts related to chromosome 21, electrophoresis, and X-inactivation are explained with examples and diagrams.

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

Ontological neighbourhood

Biology

Molecular biology: Chromosomes

Related concepts (32)

Chromosomal translocation

In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously.

Chromosome 13

Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 113 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA in cells. The following are some of the gene count estimates of human chromosome 13. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction).

Turner syndrome

Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a female has a single X chromosome, compared to the two sex chromosomes (XX or XY) in most people. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, those affected do not develop menstrual periods or breasts without hormone treatment and are unable to have children without reproductive technology.

Chromosome

A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are the histones. These proteins, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity. These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation.

Gel electrophoresis

Gel electrophoresis is a method for separation and analysis of biomacromolecules (DNA, RNA, proteins, etc.) and their fragments, based on their size and charge. It is used in clinical chemistry to separate proteins by charge or size (IEF agarose, essentially size independent) and in biochemistry and molecular biology to separate a mixed population of DNA and RNA fragments by length, to estimate the size of DNA and RNA fragments or to separate proteins by charge.

Related lectures (32)

Genetic Dosage and Chromosome 21

Explores genetic dosage, Chromosome 21, X-inactivation, and X-linked inheritance.

Chromosomal Dosage and Genetic Disorders

Explores chromosomal dosage, genetic disorders, inheritance patterns, and X chromosome inactivation.

Genetic Expression and Chromosome Dosage

Explores genetic expression, chromosome characteristics, X chromosome inactivation, and DNA methylation impact.

Chromosome Variation

Explores variations in chromosome numbers and structure, including deletions, duplications, inversions, and translocations.

Cellular Biology: Mitosis and Meiosis Overview