Looking at chromosomes
Karen Marks, senior clinical scientist in cytogenetics, discusses the impact that array CGH (Array Comparative Genomic Hybridization) has had on clinical practice. Karen describes the process of array CGH, where …
Course: The Genomics Era: the Future of Genetics in Medicine
Mr and Mrs Peterson
Mr and Mrs Peterson attend the genetics clinic to discuss Mrs Peterson’s family history of cancer. Please note: Mr and Mrs Peterson are fictional characters invented for teaching purposes, and …
Pulling it all together: Week 2
You have now reached the end of week two. Well done! In this week’s final video, we will summarise our learning from this week. We have also included a PDF …
An Introduction to Mitochondrial Inheritance
Although we often talk about conditions that result from a single mutation in a nuclear gene and follow the autosomal dominant, recessive and X-linked Mendelian inheritance patterns, it is important …
X-linked recessive inheritance
In this video, we learnt about X-linked recessive inheritance. X-linked recessive conditions are caused by a gene alteration on the X chromosome. As males have only one X chromosome, if …
Autosomal recessive inheritance
In this video, we learnt about autosomal recessive inheritance, where an affected individual has a mutation in both genes of a pair. If an individual has a mutation in only …
Sharing stories: Heleni
In this video, we hear the story of Heleni, who has been diagnosed with two autosomal dominant conditions: multiple epiphyseal dysplasia (MED) inherited from her mother and a genetic condition …
Autosomal dominant inheritance
In this video, we learnt about autosomal dominant inheritance, where an affected individual has a mutation in one gene of a pair. The main features of autosomal dominant inheritance pattern …
Understanding a pedigree
Doctors can use a pedigree to show how genetic disorders are inherited in a family. They can use this to work out the probability that someone in a family will …
What happens when there are errors in recombination?
What is recombination? Prior to segregation in meiosis, homologous chromosomes, pair and genetic material are swapped. This is known as recombination and is key to ensuring offspring have different genetic …
When genetic errors are introduced: Constitutional and somatic mutations in genetic conditions
Mutations can happen to any cell at any time. These mutations will be present in all the descendants of that cell. Where a genetic error occurs in the egg or …
Cell Mutation and Cancer
This picture shows the acquisition of mutations through the lifetime of a cell as it divides – from a single celled fertilized egg through to becoming a cancer cell. The …
Errors in replication
During this video, we will look at how copying errors are introduced and the types of replication errors that occur. Embedding your knowledge Now that you’ve watched the video, you …
These articles are from the online course:
The Genomics Era: the Future of Genetics in Medicine