Simone Lawson
The genetic constitution of an individual organism is referred to as its genotype. It is the genetic makeup of an organism, or the set of genes it carries. The genome is the complete set of genes or genetic material in a cell or organism, while the genotype is like a subset, focusing on specific genes of interest. An individual's genotype plays a crucial role in defining its potential development, for example, in humans, eye colour is influenced by the genotype. The phenotype of an organism is the collection of its observable characteristics or traits, such as height, eye colour, and blood type.
| Characteristics | Values |
|---|---|
| Genetic constitution of an individual organism | Genotype |
| Genotype | The genetic makeup of an organism or the set of genes it carries |
| Genome | The complete set of genes or genetic material in a cell or organism |
| Phenotype | The set of an organism's observable characteristics which are the result of the interaction of its genotype with the environment |
| Karyotype | The resemblance of the full set of chromosomes in the cells of an individual |
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What You'll Learn
Genotype
There are two main types of genotypes: heterozygous and homozygous. A heterozygous genotype means an organism inherits two different versions of a gene, while a homozygous genotype means an organism inherits two of the same versions of a gene. For example, in human blood type, the three different versions of the gene produce A-type, B-type, or O-type blood. A heterozygous genotype would result in types AB or AO, while a homozygous genotype would result in types AA, BB, or OO.
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Phenotype
Phenotypic variation is a prerequisite for evolution by natural selection. The interaction between genotype and phenotype is flexible, and phenotypes can be influenced by environmental conditions. For example, the plant Hieracium umbellatum grows in two different habitats in Sweden, with different phenotypes in each. In rocky, sea-side cliffs, the plants are bushy with broad leaves, while in sand dunes, they grow prostrate with narrow leaves.
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Genome
The genetic constitution of an individual organism is represented by its genome, genotype, phenotype, or karyotype. The genome is the complete set of genetic information in an organism, providing all the information it requires to function and develop. It is the full set of DNA instructions found in a cell, including all of its genes.
The term "genome" usually refers to the DNA (or sometimes RNA) molecules that carry the genetic information in an organism. The genome is stored in long molecules of DNA called chromosomes. In humans, the genome consists of 23 pairs of chromosomes located in the cell's nucleus, as well as a small chromosome in the cell's mitochondria. The human genome contains about 3 billion nucleotides. However, the size of genomes varies widely across different organisms. For example, the rare Japanese flower Paris Japonica has a genome size of roughly 150 billion nucleotides, making it 50 times larger than the human genome.
The study and analysis of genomes are called genomics. Humans are the only life form that has successfully sequenced its own genome. The Human Genome Project, an international research undertaking, was started in October 1990, and the first draft sequences of the human genome were reported in February 2001.
While the terms genome and genotype are often used interchangeably, they have distinct meanings. The genotype is the successive combination of alleles possessed by an individual for a particular gene. It is the genetic makeup of an organism, inherited from its parents, and it encodes for genes that give rise to specific traits or the phenotype, which is the morphological appearance of an individual.
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Karyotype
Karyotyping is a laboratory technique used to analyse the structure and number of chromosomes in an individual's cells. It provides a visual representation of the chromosomes, allowing for the identification of chromosomal variants such as deletions, duplications, and structural rearrangements. This technique is particularly useful in clinical situations, such as investigating infertility or recurrent miscarriage, and in the detection of chromosome rearrangements that drive cancer.
To perform karyotyping, a sample of nucleated cells is obtained and cultured in a laboratory. The cells are then treated with enzymes and stained, typically using the Giemsa stain, to produce G-banding patterns. These patterns are unique to each chromosome and can be visualised under a light microscope. By analysing these patterns, cytogeneticists can identify and count the chromosomes, arranging them in pairs based on size and centromere position.
The resulting karyogram provides valuable information about the individual's genetic makeup, including any abnormalities or variants present. It is an essential tool in cytogenetics, aiding in the diagnosis of chromosomal aberrations, studying cellular function, understanding taxonomic relationships, and even predicting the sex of an unborn fetus.
In summary, a karyotype is a comprehensive description of an individual's complete set of chromosomes, including their number, size, shape, and physical characteristics. Karyotyping is the process of creating a visual representation of this karyotype, which is valuable in various medical and research applications, providing insights into genetic variations and abnormalities.
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Genotypic assay
The genetic constitution of an individual organism is represented by its genome, genotype, phenotype, and karyotype. The genome is the complete set of DNA that comprises all of an organism's genes. The genotype is the successive combination of alleles possessed by an individual for a particular gene. The phenotype is the morphological appearance of the organism, which is given by the expression of the genotype. The karyotype is the resemblance of the full set of chromosomes in the cells of an individual.
Genotyping is the process of decoding the genotype of an individual with a biological assay. This process is also called a genotypic assay. Genotypic assays are used to determine the presence of mutations that are known to confer decreased drug susceptibility. For example, genotypic assays are used to assess the genotype of a patient's HIV status and indicate which drugs the virus is likely to be resistant to. This helps clinicians provide appropriate anti-retroviral therapy. Genotypic assays can also be used to detect antiretroviral drug resistance in the human immunodeficiency virus.
There are several techniques used in genotypic assays, including:
- PCR
- DNA fragment analysis
- Allele-specific oligonucleotide (ASO) probes
- DNA sequencing
- Nucleic acid hybridization to DNA microarrays
Several other genotyping techniques include:
- Restriction fragment length polymorphism (RFLP)
- Terminal restriction fragment length polymorphism (t-RFLP)
- Amplified fragment length polymorphism (AFLP)
- Multiplex ligation-dependent probe amplification
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Frequently asked questions
The genetic constitution of an individual organism is called its genotype.
A genotype is the genetic makeup of an organism or the set of genes it carries. It is the complete set of chromosomes inherited from an organism's parents.
A phenotype is the set of observable characteristics of an organism, which are the result of the interaction of its genotype with the environment.
A genome is the complete set of genes or genetic material in a cell or organism.
A karyotype is the resemblance of the full set of chromosomes in the cells of an individual.
