[Application of single nucleotide polymorphisms (SNPs) for the detection of genes involved in the control of complex diseases].
The advances in the Human Genome Project (HGP), which have created a huge database, may contribute to our understanding of the etiopathology of complex diseases. These diseases are characterized by a high prevalence within families and by the influence of genetic factors as well as environmental conditions on its natural history (multifactorial diseases). Researchers nowadays focus on the genetic diversity between people by learning the biological significance of a certain DNA marker--the single nucleotide polymorphism (SNP). The universal technology of miniaturization of biological and electronic devices is producing an important infrastructure. Among these tools of infrastructure is the high--throughput genotyping system which enables researchers to perform whole genome screening for hundreds of thousands of SNPs in a relatively short period of time. The evolving data is accumulating rapidly and is pushing the field of bioinformatics into the forefront. The more association studies there are on block-like structure of haplotypes of SNPs in complex diseases the more our ability to identify persons in presymptomatic states will improve. The end product of the above-mentioned developments is expected to contribute to better ways of treatment (pharmacogenomics).
Gefel
Dov
D
Department of Medicine C, Barzilai Hospital Ashkelon Israel. gefel@barzi.health.gov.il
Maslovsky
Igor
I
Hillel
Jossi
J
D004777:Environment; D005796:Genes; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D016045:Human Genome Project; D006801:Humans; D008904:Miniaturization; D020641:Polymorphism, Single Nucleotide; D013672:Technology / Q000379:methods / Q000639:trends