ARMS (Amplification-refractory mutation system) is a PCR technique used in sickle cell disorder molecular diagnosis. (ARMS-PCR). These resources contain figures that step you through the basis of the process.
RFLP (Restriction fragment length polymorphisms) are other molecular techniques for identifying β-globin mutations in sickle cell disorder. A β–globin gene mutation is a common error which affects haemoglobin structure. You may wish to refer to our other genetics animated resources to explain these processes in more detail.
A resource describing ASO hybridisation which is a common tool in molecular biology, genetic testing or forensic research.
In the human disease sickle cell, there is a genetic mutation in the blood protein beta-haemoglobin. ASO can be used to detect the mutation in a DNA sample and therefore is used to identify the presence of the sickle cell mutation.
Undergraduate bioscience or medical student
This resource introduces some genetic terminology – for example what is genotype, and what is phenotype. It then steps you through how sickle cell anaemia can be inherited, and provides different patterns of outcome.
These OERs are in the form of Flash animations published as SWF files and MP4 videos. They are bundled into complete learning resources and are complete with narrations. The quiz file contains 36 multiple choice questions and answers accompanying the resources. All of these animations are also published on YouTube.
The first is an introduction to genetic concepts from a basic understanding of DNA and chromosomes to genetic mutations. It provides a background before moving onto the animations that describe the genetics of haemoglobin alpha and beta mutations, including those mutations associated with sickle cell disease.
The SCOOTER SICKLE CELL DISEASE project is very proud to announce that today we are releasing as an open education resource one of the key works of one of the greatest anthropologists of the twentieth century, FB Livingstone. The work is: Livingstone, FB (1985) Frequencies of Hemoglobin Variants, Thalassemia, The Glucose-6-Phosphate Dehydrogenase Deficiency, G6PD Variants, and Ovalocytosis in Human Populations New York: Oxford University Press.
Frank B Livingstone (December 8, 1928 – March 21, 2005) is best known for elucidating one of the key insights underpinning theories of human evolution, namely the role of sickle cell and malaria in explaining human genetic variation. His classic article “Anthropological Implications of Sickle Cell Gene Distribution in West Africa,” published in 1958 in American Anthropologist, explored how the sickle cell gene was relatively absent in 1950s Liberia even though malaria was endemic. Livingstone tracked this apparent anomaly to the fact that, as relatively late adopters of agriculture (which meant clearing forests that previously had shaded and cooled flowing waters – conditions less favourable to mosquitoes, who require heated shallow pools of water for their larvae to breed) Liberians had only recently created the ecological niche suitable for the mosquitoes responsible for spreading falciparum malaria against which sickle cell trait provides a strong survival advantage during early infancy. As the selective genetic advantage takes a number of generations to build up, this explained the relative lack of the sickle cell gene in a malarial environment.
The book, Frequencies of Hemoglobin Variants, has been out of print for a number of years, but after discussion with Oxford University Press and with the kind permission of Frank’s daughter Amy, we have great pleasure in making the book available again through this open education resource.