Genotyping
The genotyping referred methods for determining differences in the genetic composition ( genotype ) of a living being by studying its genetic information .
properties
Using biological assays , the sequence is compared to another individual sequence or a reference sequence. Genotyping shows the alleles that an individual has inherited from their parents. In order to differentiate between the DNA sequences of two individuals of a species, areas are examined which differ from one another within a population, such as SNP , microsatellites and other VNTR , gene copy number variants .
Methods
Genotyping can be done using a variety of methods. A genetic fingerprint is generated. The methods used include the polymerase chain reaction (partly with allele-specific oligonucleotides and as qPCR ), RFLP (including ribotyping , ARDRA ), PFGE , RAPD , DGGE and TGGE . This means that no DNA sequences are determined, only two genomes are differentiated. The various methods are increasingly being replaced by DNA sequencing .
execution
The material for the test can be obtained e.g. B. from saliva, swabs of the oral mucosa or blood. American providers usually cost less than 100 euros. The most common data format are .vcf files, which can be downloaded from various providers after the test has been carried out. These files usually list a single nucleotide polymorphism per line and then the variant found.
Medical importance
The disposition to or resistance to some diseases and the effectiveness of drugs has been studied for several years and is the subject of current research. Despite a lot of scientific knowledge, these have so far hardly found their way into clinical practice. This depends, among other things, on strict legal regulations that make it difficult.
Individual evidence
- ^ Genetics Home Reference: Resources. Retrieved February 6, 2018 .
- ↑ Federico Innocenti: Pharmacogenomics. In: Methods in Molecular Biology , Volume 311. Springer Science & Business Media, 2005, ISBN 978-1-592-59957-8 , pp. 65-66.
- ↑ Dongyou Liu: Molecular Detection of Human Bacterial Pathogens. CRC Press, 2011, ISBN 978-1-439-81238-9 , p. 259.