Topic: Genetics
A type of gene that makes proteins involved in controlling cell growth and division. When these genes are mutated and stop working properly, it can lead to uncontrolled cell division which promotes the development of cancer.
Pronounced “snip,” this is the most common type of genetic variation in people. A SNP is a DNA variation that involves one DNA “building block”, called a nucleotide (see DNA).
A method used in the laboratory to learn the order, or sequence, of the building blocks in a piece of DNA or RNA. Sequencing can be used to determine the entire genetic makeup of a specific organism, i.e. their genome, and identify mutations. There are different types of sequencing methodologies, including Sanger sequencing and next-generation […]
RNA is a type of genetic material made by cells (see DNA) that plays a key role in many cellular processes. Unlike DNA, which stores genetic instructions, RNA helps carry out those instructions. Cells produce several types of RNA, each with a specific function – many are involved in making proteins that the body needs […]
Ploidy refers to the number of chromosome pairs in a cell. Normal human somatic cells have 23 pairs of chromosomes, known as diploid cells. Human germ cells (eggs and sperm) only have a single set of 23 chromosomes, known as haploid cells. Cells that have either more, or less, than the normal 23 pairs of […]
A gene that makes a protein which plays a critical role in controlling cell division and cell death. Mutations (changes) in the p53 gene may cause cancer cells to grow and spread in the body. p53 is one of the most commonly mutated genes across many types of cancers and is a type of tumour […]
An oncogene is a mutated version of a normal gene, called a proto-oncogene, that can cause cancer by promoting uncontrolled cell growth and division. Normally, proto-oncogenes help regulate cell growth and division, but when a mutation causes too many copies or makes the gene more active than normal, it can promote cancer development.
Any change in the DNA sequence of a gene. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Although these mistakes occur millions of times each day in our cells, our bodies have sophisticated repair systems that recognise and repair many of […]
Describes the passing of genetic information from parent to child (offspring) through the genes in sperm and egg cells.
A study that tries to identify common variations in the complete set of DNA (the genome) in a very large group of people to look for associations of these variations with a particular disease (or another trait). The GWAS lays the groundwork for personalised medicine.