Genome Characterization

BioCodeKb - Bioinformatics Knowledgebase

Genomic characterization (also called genomic profiling) is a laboratory method that is used to learn about all the genes in a person or in a specific cell type, and the way those genes interact with each other and with the environment. Genomic characterization may be used to find out why some people get certain diseases while others do not, or why people react in different ways to the same drug. It may also be used to help develop new ways to diagnose, treat and prevent diseases, such as cancer.


The process, developed by Glassberg and independently by Jeffreys, begins with a sample of an individual's DNA (typically called a "reference sample"). Reference samples are usually collected through a buccal swab. When this is unavailable other methods may be needed to collect a sample of blood, saliva, semen, vaginal lubrication, or other fluid or tissue from personal use items (for example, a toothbrush, razor) or from stored samples (for example, banked sperm or biopsy tissue). Samples obtained from blood relatives can indicate an individual's profile, as could previous profiled human remains. A reference sample is then analyzed to create the individual's DNA profile using certain techniques. The DNA profile is then compared against another sample to determine whether there is a genetic match or not, because in the human genome, there is a small amount of DNA that is unique to individuals. By cutting a sample of DNA into fragments and separating the fragments by size, it is possible to make a characteristic profile of DNA bands for individuals.


Uses

  • In criminal investigations, comparing criminal suspects profiles to DNA evidence so as to assess the chance of their involvement in the crime. Suspects should be a complete match with the DNA sample taken from the crime scene if a conviction is to occur. The number of loci used to generate a unique profile depends on the size of the population being compared.

  • It is also used in parentage testing, to establish immigration eligibility. Children inherit half their chromosomes from each parent and thus should possess a combination of parental fragments. In other words, all fragments produced in the child should also be produced by either the mother or father.

  • In genealogical and medical research

  • DNA profiling has also been used in the study of animal and plant populations in the fields of zoology, botany, and agriculture.


How to produce a DNA fingerprint

  • Isolation: separate the DNA from other tissues.

  • Fragmentation: use an enzyme to break the DNA into short lengths.

  • Separation: pass an electric current across a layer of gel which has the DNA fragments at one end. The fragments will move different distances across the gel. This is called gel electrophoresis.

  • Comparison: match the pattern of fragments on the gel with other samples of DNA.


DNA profiles can also be used to identify alleles associated with particular genetic disorders. Testing of newborn babies uses this technique to look for disorders such as cystic fibrosis. The early identification of genetic disorders such as their results in early treatment can reduce the impact of the disorder on the sufferer’s life.


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