Gene mapping describes identifying the location of specific genes on chromosomes.

It is a key
step in understanding genetic diseases. The goal of gene mapping is to understand and treat
genes that cause genetic disease.
The Human Genome Project (HGP) was essentially completed in 2003. It was a 13-year project
sponsored by the United States Department of Energy and the National Institutes of Health.
Major contributions were made by China, France, Germany, Japan and Great Britain as well as
others. Its goal was to build detailed guides to the type and location of all genes on
chromosomes.
Every human being has 46 chromosomes. Twenty-three are inherited from the mother and 23
from the father of the child. The X and Y chromosomes make the essential difference between
male and female. If the chromosomes that determine the sexual inheritance are both X then the
child will be a female. If one is an X and the other is a Y the child will be a male. The other
chromosomes contain the genes that regulate the growth and functioning of all of the cells in the
human body.
The creation of a genetic map plotting the locations of genes on DNA strains of the respective
chromosomes is the goal of gene mapping. A genome is the total set of genes on chromosomes.
The genome may be that of a human (human genome) or a chicken or pig (chicken genome and
pig genome). When researchers begin the process of gene mapping there is nothing on the map.
As the genome is investigated the chromosomes are identified and the respective genes are also
identified and their location plotted on their respective chromosomes. The end product is a
complete map reporting the location of all the respective genomes genes and the DNA
sequencing of the bases of each gene.
Genetic markers are fragments of DNA that identify differences in strains. The genetic markers
are unique sequence-dependent patterns or DNA. The ordering of the different bases in genes is
made by observing recombinant frequencies. The makers are somewhat like finger prints because
of their unique characteristics.
It was estimated that there were between 50,000 and 100,000 genes in humans. However, the
number of genes turned out to be much smaller. The number of genes is only between 20,000 and
25,000. The additional goal of determining the sequences of the three billion chemical base pairs
that make up human DNA was also a goal.
There are two ways to do gene mappinggenetic mapping and physical mapping. Gene
mapping identifies the order of genes along each chromosome. Genetic mapping analyzes the
locus of genes on chromosomes. The locus of a gene (loci of genes) on a chromosome can allow
it to be linked to another gene, in which case the two genes are linked. If genes are not linked

to each other although linked to the chromosome then they are separated by an independent
assortment.
Alleles are the sequences of chemical units that compose the genetic sequence of the gene. The
loci may be the genetic inheritance of both the father and the mother of the human whose
genetics are being mapped.
The genes may have different loci, but during DNA crossover there may be a recombination of
loci so that the order of the genes on the chromosomes is changed. The closer two genes are the
less likely recombination is to occur. This failure to recombine is due to the fact that
recombination frequency is more likely to occur when there is a chiasma between the two loci.
If two DNA molecules are homologous and they combine the new combination is called DNA
crossover. During meiosis if two homologous pairs of sister chromatids align side by side then
DNA crossover is likely to occur.
The point at which two homologs connect is the chiasma. This is where the two homologs
exchange DNA segments. The exchange is from the chiasma to the end of the chromosomes. If
during the DNA exchange the sequences of chemicals on the DNA do not match exactly on the
chromatid then the exchange will be an unequal crossover. The effect is to mis-code the genetic
sequence.
Physical gene mapping techniques are more precise than those used in gene mapping. The
methods seek to establish the distances of genes on the chromosome and their distance from each
other. Physical gene mapping include somatic cell hybridization and fluorescent in situ
hybridization (FISH).
Both the gene mapping and the physical mapping methods use genetic markers. These are
specific physical or molecular features that differ among individual people. These markers are
also transmitted genetically to succeeding generations.
Physical mapping seeks to understand the process of DNA replication. When DNA replicates it
creates a group of clones, but it does not have to replicate all of the DNA. With a map the clones
are used to map the workings of the whole genome. The clones allow for the visualization of
stretches of DNA in operation.
Once mapping is completed genes can be investigated for a number of features. The most
common is to identify the location of genetic disorders on genes. Then the investigation seeks to
find ways to overcome the gene deficiency. There are many diseases that are genetically based.
These include achondroplasia, agammaglobulinemia, albinoism, ankylosis, cellac disease (celiac
sprue), Huntingtons Chorea, Christmas disease (hemophilia B), cystic fibrosis, Downs

syndrome, dwarfism, Ehlers-Danlos syndrome, epilepsy, Friedreichs ataxia, Gauchers disease,

hemolytic disease of the new born, hemophilia, Hirschsprungs disease (megacolon),
Klinefeiters syndrome, myotonia congentia, osteogenesis imperfecta, phenylketonuria,
polycystic kidney, sickle cell anemia, Tay-Sachs disease (gangliosidosis), Thalassemia
(hemolytic anemia), Turners syndrome (gonadal dysgenesis), Von Recklinghausens disease
(neurofibromatosis), Wilsons disease, and many others.
The process of identify the genetic locations responsible for genetically based diseases is also a
form of gene mapping. It requires development of a very fine map of the base sequences on the
gene responsible for the disease. It can also be used to investigate the origin and the
manifestation of genetic disease in large families. For these data it is also possible to project the
demographics of the disease in the general population.
There are numerous benefits that will be harvested in the short run from gene mapping. Among
these are contributions to molecular medicine, environmental applications, advances in
anthropology and especially in bioarchaeology which seeks to trace the linage of people, forensic
DNA and the precise identification of criminals, and advances in agriculture, livestock breeding
and other bioprocesses.
Advances in genome science now being applied to all plants and animals are making biology the
great science of the 21st century. It has created a biotech industry that producing billions of
dollars in goods and services in the near future.