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Molecular genetic definition

Molecular genetics is a sub-field of biology that addresses how differences in the structures
or expression of DNA molecules manifests as variation among organisms. Molecular
genetics often applies an "investigative approach" to determine the structure and/or function
of genes in an organism’s genome using genetic screens.  The field of study is based on the
merging of several sub-fields in biology:  classical Mendelian inheritance, cellular
biology, molecular biology, biochemistry, and biotechnology.  Researchers search for
mutations in a gene or induce mutations in a gene to link a gene sequence to a specific
phenotype.  Molecular genetics is a powerful methodology for linking mutations to genetic
conditions that may aid the search for treatments/cures for various genetics diseases.

History
For molecular genetics to develop as a discipline, several scientific discoveries were
necessary.  The discovery of DNA as a means to transfer the genetic code of life from one
cell to another and between generations was essential for identifying the molecule
responsible for heredity.  Watson and Crick (in conjunction with Franklin and Wilkins) figured
out the structure of DNA, a cornerstone for molecular genetics. The isolation of a restriction
endonuclease in E. coli by Arber and Linn in 1969 opened the field of genetic engineering 
Restriction enzymes were used to linearize DNA for separation
by electrophoresis and Southern blotting allowed for the identification of specific DNA
segments via hybridization probes. In 1971, Berg utilized restriction enzymes to create the
first recombinant DNA molecule and first recombinant DNA plasmi  In 1972, Cohen and
Boyer created the first recombinant DNA organism by inserting recombinant DNA plasmids
into E. coli, now known as bacterial transformation, and paved the way for molecular
cloning.  The development of DNA sequencing techniques in the late 1970s, first by Maxam
and Gilbert, and then by Frederick Sanger, was pivotal to molecular genetic research and
enabled scientists to begin conducting genetic screens to relate genotypic sequences to
phenotypes.Polymerase chain reaction(PCR) using Taq polymerase, invented by Mullis in
1985, enabled scientists to create millions of copies of a specific DNA sequence that could
be used for transformation or manipulated using agarose gel separation.A decade later, the
first whole genome was sequenced (Haemophilus influenzae), followed by the eventual
sequencing of the human genome via the Human Genome Project in 2001 The culmination
of all of those discoveries was a new field called genomics thEnsemblat links the molecular
structure of a gene to the protein or RNA encoded by that segment of DNA and the
functional expression of that protein within an organism Today, through the application of
molecular genetic techniques, genomics is being studied in many model organisms and data
is being collected in computer databases like NCBI and Ensembl The computer analysis and
comparison of genes within and between different species is called bioinformatics, and links
genetic mutations on an evolutionary scale.
Techniques in molecular Genetic
Forward genetics

Forward genetics is a molecular genetics technique used to identify genes or genetic


mutations that produce a certain phenotype. In a genetic screen, random mutations are
generated with mutagens (chemicals or radiation) or transposons and individuals are
screened for the specific phenotype. Often, a secondary assay in the form of a selection may
follow mutagenesis where the desired phenotype is difficult to observe, for example in
bacteria or cell cultures. The cells may be transformed using a gene for antibiotic
resistance or a fluorescent reporter so that the mutants with the desired phenotype are
selected from the non-mutants.[14]X

Mutants exhibiting the phenotype of interest are isolated and a complementation test may
be performed to determine if the phenotype results from more than one gene. The mutant
genes are then characterized as dominant(resulting in a gain of
function), recessive(showing a loss of function), or epistatic (the mutant gene masks the
phenotype of another gene). Finally, the location and specific nature of the mutation is
mapped via sequencing.[15]Forward genetics is an unbiased approach and often leads to
many unanticipated discoveries, but may be costly and time consuming. Model organisms
like the nematode worm Caenorhabditis elegans, the fruit fly Drosophila melanogaster,
and the zebrafish Danio rerio have been used successfully to study phenotypes resulting
from gene mutationsX

Forward genetics

Forward genetics is a molecular genetics technique used to identify genes or genetic


mutations that produce a certain phenotype. In a genetic screen, random mutations are
generated with mutagens (chemicals or radiation) or transposons and individuals are
screened for the specific phenotype. Often, a secondary assay in the form of a selection may
follow mutagenesis where the desired phenotype is difficult to observe, for example in
bacteria or cell cultures. The cells may be transformed using a gene for antibiotic
resistance or a fluorescent reporter so that the mutants with the desired phenotype are
selected from the non-mutants.[14]X

Mutants exhibiting the phenotype of interest are isolated and a complementation test may
be performed to determine if the phenotype results from more than one gene. The mutant
genes are then characterized as dominant(resulting in a gain of
function), recessive(showing a loss of function), or epistatic (the mutant gene masks the
phenotype of another gene). Finally, the location and specific nature of the mutation is
mapped via sequencing.[15]Forward genetics is an unbiased approach and often leads to
many unanticipated discoveries, but may be costly and time consuming. Model organisms
like the nematode worm Caenorhabditis elegans, the fruit fly Drosophila melanogaster,
and the zebrafish Danio rerio have been used successfully to study phenotypes resulting
from gene mutations.X

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