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Genetic marker

 

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Genetic marker



 
 
A genetic marker is a gene or DNA sequence
DNA sequence

A DNA sequence or genetic sequence is a succession of letters representing the primary structure of a real or hypothetical DNA molecule or strand, with the capacity to carry information as described by the central dogma of molecular biology....
 with a known location on a chromosome and associated with a particular gene
Gene

A gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain their cell and pass genetic trait to offspring....
 or trait. It can be described as a variation, which may arise due to mutation or alteration in the genomic loci, that can be observed. A genetic marker may be a short DNA sequence, such as a sequence surrounding a single base-pair change (single nucleotide polymorphism
Single nucleotide polymorphism

A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — adenine, thymine, cytosine, or guanine — in the genome differs between members of a species ....
, SNP), or a long one, like minisatellites
Minisatellite

A minisatellite is a section of DNA that consists of a short series of bases 10-60bp. These occur at more than 1000 locations in the human genome....
.

Background
For many years, gene mapping was limited in most organisms by traditional genetic markers which include genes that encode easily observable characteristics such as blood types or seed shapes.






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A genetic marker is a gene or DNA sequence
DNA sequence

A DNA sequence or genetic sequence is a succession of letters representing the primary structure of a real or hypothetical DNA molecule or strand, with the capacity to carry information as described by the central dogma of molecular biology....
 with a known location on a chromosome and associated with a particular gene
Gene

A gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain their cell and pass genetic trait to offspring....
 or trait. It can be described as a variation, which may arise due to mutation or alteration in the genomic loci, that can be observed. A genetic marker may be a short DNA sequence, such as a sequence surrounding a single base-pair change (single nucleotide polymorphism
Single nucleotide polymorphism

A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — adenine, thymine, cytosine, or guanine — in the genome differs between members of a species ....
, SNP), or a long one, like minisatellites
Minisatellite

A minisatellite is a section of DNA that consists of a short series of bases 10-60bp. These occur at more than 1000 locations in the human genome....
.

Background


For many years, gene mapping was limited in most organisms by traditional genetic markers which include genes that encode easily observable characteristics such as blood types or seed shapes. The insufficient amount of these types of characteristics in several organisms limited the mapping efforts that could be done.

New molecular techniques in 1980's, made it possible to examine variations in DNA, providing unlimited number of genetic markers that can be used for creating genetic maps as well as for studying linkages between diseases and genetic inheritance. Restriction fragment length polymorphism
Restriction fragment length polymorphism

A restriction fragment length polymorphism is a Polymorphism in the DNA sequence of a genome that can be detected by breaking the DNA into pieces with restriction enzymes and analyzing the size of the resulting fragments by gel electrophoresis....
 (RFLPs) were one of the earliest molecular marker methods used which detect variations in DNA sequencing by cutting the DNA with restriction enzymes. More methods were developed later that detected variable numbers of short DNA sequences repeated in tandem, called microsatellite
Microsatellite

Microsatellites, or Simple Sequence Repeats , are Polymorphism loci present in nuclear DNA and organellar DNA DNA that consist of repeating units of 1-6 base pairs in length....
s. Single nucleotide polymorphisms (SNPs) were a more recent way of detecting individual variations in DNA nucleotides directly. All of these methods have expanded the availability of genetic markers hence facilitating the creation of genetic maps.

Types


Some commonly used types of genetic markers are
  • RFLP (or Restriction fragment length polymorphism
    Restriction fragment length polymorphism

    A restriction fragment length polymorphism is a Polymorphism in the DNA sequence of a genome that can be detected by breaking the DNA into pieces with restriction enzymes and analyzing the size of the resulting fragments by gel electrophoresis....
    )
  • AFLP (or Amplified fragment length polymorphism
    Amplified fragment length polymorphism

    Amplified fragment length polymorphism PCR is a polymerase chain reaction tool used in genetics research, DNA fingerprinting, and in the practice of genetic engineering....
    )
  • RAPD (or Random amplification of polymorphic DNA
    RAPD

    RAPD stands for Random Amplification of Polymorphic DNA. It is a type of PCR reaction, but the segments of DNA that are amplified are random....
    )
  • VNTR (or Variable number tandem repeat
    Variable number tandem repeat

    A Variable Number Tandem Repeats is a location in a genome where a short nucleotide sequence is organized as a tandem repeat. These can be found on many chromosomes, and often show Polymorphism in length between individuals....
    )
  • Microsatellite
    Microsatellite

    Microsatellites, or Simple Sequence Repeats , are Polymorphism loci present in nuclear DNA and organellar DNA DNA that consist of repeating units of 1-6 base pairs in length....
     polymorphism
  • SNP (or Single nucleotide polymorphism
    Single nucleotide polymorphism

    A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — adenine, thymine, cytosine, or guanine — in the genome differs between members of a species ....
    )
  • STR (or Short tandem repeat
    Short tandem repeat

    A short tandem repeat in DNA is a class of polymorphism that occurs when a pattern of two or more nucleotides are repeated and the repeated sequences are directly adjacent to each other....
    )
  • SFP (or Single feature polymorphism)


They can be further categorized as dominant or co-dominant. Dominant markers allow for analyzing many loci at one time, e.g. RAPD. A primer amplifying a dominant marker could amplify at many loci in one sample of DNA with one PCR reaction. Co-dominant markers analyze one locus at a time. A primer amplifying a co-dominant marker would yield one targeted product.

Uses


Genetic markers can be used to study the relationship between an inherited disease and its genetic
Genetics

Genetics , a discipline of biology, is the science of heredity and Genetic variation in living organisms. The fact that living things inherit traits from their parents has been used since prehistoric times to improve crop plants and animals through selective breeding....
 cause (for example, a particular mutation
Mutation

In biology, mutations are changes to the nucleotide sequence of the genetic material of an organism. Mutations can be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or ionizing radiation, chemical mutagens, or virus , or can be induced by the organism, itself, by cellular processes such as s...
 of a gene
Gene

A gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain their cell and pass genetic trait to offspring....
 that results in a defective protein
Protein

Proteins are organic compounds made of amino acids arranged in a linear chain and joined together by peptide bonds between the carboxyl and amino groups of adjacent amino acid Residue ....
). It is known that pieces of DNA that lie near each other on a chromosome tend to be inherited together. This property enables the use of a marker, which can then be used to determine the precise inheritance pattern of the gene that has not yet been exactly localized.

Genetic markers have to be easily identifiable, associated with a specific locus
Locus (genetics)

In the fields of genetics and evolutionary computation, a locus is a fixed position on a chromosome such as the position of a genetic marker that may be occupied by one or more genes....
, and highly polymorphic
Polymorphism (biology)

Polymorphism in biology occurs when two or more clearly different phenotypes exist in the same population of a species ? in other words, the occurrence of more than one form or morph....
, because homozygotes do not provide any information. Detection of the marker can be direct by RNA sequencing, or indirect using allozyme
Allozyme

Variant forms of an enzyme that are coded for by different alleles at the same Locus are called allozymes as opposed to isozymes which are enzymes that perform the same function, but which are coded for by genes located at different loci....
s.

Some of the methods used to study the genome
Genome

In classical genetics, the genome of a diploid organism including eukarya refers to a full set of chromosomes or genes in a gamete; thereby, a regular somatic cell contains two full sets of genomes....
 or phylogenetics
Phylogenetics

In biology, phylogenetics is the study of evolutionary relatedness among various groups of organisms , which is discovered through molecular sequencing data and morphological data matrices....
 are RFLP, Amplified fragment length polymorphism
Amplified fragment length polymorphism

Amplified fragment length polymorphism PCR is a polymerase chain reaction tool used in genetics research, DNA fingerprinting, and in the practice of genetic engineering....
 (AFLP), RAPD, SSR. They can be used to create genetic maps of whatever organism is being studied.

There was a debate over what the transmissible agent of (canine transmissible venereal tumor
Canine transmissible venereal tumor

Canine transmissible venereal tumor , also called transmissible venereal tumor , Sticker tumor and infectious sarcoma is a histiocytic tumor of the dog and other canids that mainly affects the external genitalia, and is transmitted from animal to animal during copulation....
, CTVT) was. Many researchers hypothesized that virus like particles were responsible for transforming the cell, while others thought that the cell itself was able to infect other canines as an allograft. With the aid of genetic markers, researchers were able to provide conclusive evidence that the cancerous tumor cell evolved into a transmissible parasite. Furthermore, molecular genetic markers were used to resolve the issue of natural transmission, the breed of origin (phylogenetics
Phylogenetics

In biology, phylogenetics is the study of evolutionary relatedness among various groups of organisms , which is discovered through molecular sequencing data and morphological data matrices....
), and the age of the canine tumor.

Genetic Markers have also been used to measure the genomic response to selection in livestock. Natural and artificial selection leads to a change in the genetic makeup of the cell. The presence of different alleles due to a distorted segregation at the genetic markers is indicative of the difference between selected and non-selected livestock.

Insulin production


Genetic markers also play a role in genetic engineering
Genetic engineering

Engineering There are a number of ways through which genetic engineering is accomplished. Essentially, the process has five main steps# Isolation of the genes of interest...
, as they can be used to produce normal, functioning proteins to replace defective ones. The damaged or faulty section of DNA is removed and replaced with the identical, but functioning, gene sequence from another source.

This is done by removal of the faulty section of DNA and its replacement with the functioning gene from another source, usually a human donor. These gene sections are placed in solution with bacterial cells, a small number of which take up the genetic material and reproduce the new DNA sequence. Engineers need to know which bacteria have been successful in duplicating these genes so another gene is added, altering the bacteria's resistance to antibiotics. Replica plating
Replica plating

In molecular biology and microbiology, replica plating is a technique in which one or more secondary Petri plates containing different solid selective medium are inoculated with the same colonies of microorganisms from a primary plate , reproducing the original spatial pattern of colonies....
 or a fermenter is used to grow enough bacteria to test resistance to antibiotics. It is important that the cultures are not mixed.

This process can be used as a treatment for diabetes mellitus
Diabetes mellitus

Diabetes mellitus , often referred to simply as diabetes , is a syndrome of disordered metabolism, usually due to a combination of genetic disorder and environmental causes, resulting in abnormally high blood sugar levels ....
. Bacterial DNA often has two resistency genes: one for tetracycline
Tetracycline

Tetracycline is a broad-spectrum polyketide antibiotic produced by the Streptomyces genus of Actinobacteria, indicated for use against many bacterial infections....
 and one for ampicillin
Ampicillin

Ampicillin is a beta-lactam antibiotic antibiotic that has been used extensively to treat bacterium infections since 1961. It is considered part of the aminopenicillin family and is roughly equivalent to amoxicillin in terms of spectrum and level of activity....
. The insulin gene can be inserted in the middle of the ampicillin gene after it has been removed using restriction endonucleases. If the gene has been taken up, the bacteria both produces insulin and is also no longer ampicillin resistant. The bacteria are then allowed to grow on an agar
Agar

Agar or agar agar is a gelatinous substance derived from seaweed. Historically and in a modern context, it is chiefly used as an ingredient in desserts throughout Japan, but in the past century has found extensive use as a solid substrate to contain Growth medium for microbiology work....
 plate containing a culture medium. The bacteria grow and produce colonies on the agar jelly. A piece of filter paper can be placed onto the top of this agar plate so that the exact positions of the colonies are remembered. This produces a copy which can then be transferred onto a second agar plate containing ampicillin. All of the bacteria that are not resistant to ampicillin will die. These locations on the second plate show the places on the first plate where bacteria are not resistant and, therefore, produce insulin. Another similar method is followed, in which an epitope sequence is added to insert. When the insert is expressed so is the epitope. Then this epitope can be effectively bound using an antibody
Antibody

Antibodies are gamma globulin proteins that are found in blood or other bodily fluids of vertebrates, and are used by the immune system to identify and neutralize foreign objects, such as bacterium and viruses....
 on a filter paper. And the expressing colonies can be easily selected.

See also

  • Amplified fragment length polymorphism
    Amplified fragment length polymorphism

    Amplified fragment length polymorphism PCR is a polymerase chain reaction tool used in genetics research, DNA fingerprinting, and in the practice of genetic engineering....
  • short tandem repeat
    Short tandem repeat

    A short tandem repeat in DNA is a class of polymorphism that occurs when a pattern of two or more nucleotides are repeated and the repeated sequences are directly adjacent to each other....
  • single nucleotide polymorphism
    Single nucleotide polymorphism

    A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — adenine, thymine, cytosine, or guanine — in the genome differs between members of a species ....


Other references


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