Emva kokuba umphengululi waseMelika u-Eric S. Lander ecebise ngokusesikweni i-nucleotide polymorphism (SNP) njengesizukulwana sesithathu se-molecular marker kwi-1996, i-SNP isetyenziswe ngokubanzi kuhlalutyo lombutho wezoqoqosho, ukwakhiwa kwemephu ye-biological genetic linkage, kunye nokuhlolwa kofuzo lwabantu., Ukuxilongwa kwengozi yesifo kunye nokuqikelelwa, ukuhlolwa kweziyobisi komntu ngamnye, kunye nezinye iinkalo zophando lwebhayoloji kunye nezonyango.Kwintsimi yokuzalanisa isityalo semali, ukuchongwa kwe-SNP kunokuqonda ukukhetha kwangaphambili kweempawu ezifunekayo.Olu khetho luneempawu zokuchaneka okuphezulu kwaye lunokuphepha ngokufanelekileyo ukuphazamiseka kwe-morphology kunye nemiba yokusingqongileyo, ngaloo ndlela inciphisa kakhulu inkqubo yokuzala.Ke ngoko, i-SNP idlala indima enkulu kwinkalo yophando olusisiseko.

I-Single Nucleotide Polymorphism (i-Nucleotide Polymorphism enye, i-SNP) ibhekisela kwinto yokuba kukho ukungafani kwe-nucleotide enye kwindawo efanayo kwi-DNA yokulandelelana kwabantu beentlobo ezifanayo okanye ezahlukeneyo.Ukufakwa, ukucima, ukuguqulwa kunye nokuguqulwa kwesiseko esisodwa kunokubangela lo mahluko.Ngaphambili, inkcazo ye-SNP yayahluke kuleyo yokuguqulwa kwenguqu.I-locus eyahlukileyo ifuna ukuba ukuphindaphinda kwesinye se-alleles kubemi kukhulu kune-1% ukwenzela ukuba kuchazwe njenge-SNP locus.Nangona kunjalo, kunye nokwandiswa kweethiyori zebhayoloji zanamhlanje kunye nokusetyenziswa kwetekhnoloji, i-allele frequency ayisekho imeko eyimfuneko ukunciphisa inkcazo ye-SNP.Ngokutsho kwedatha yokuhluka kwe-nucleotide enye efakwe kwi-Single Nucleotide Polymorphisms (dbSNP) yolwazi phantsi kweZiko leSizwe loLwazi lwe-Biotechnology (NCBI), ukufakwa / ukususwa kwe-low-frequency, i-microsatellite variation, njl.

Emzimbeni womntu, i-frequency ye-SNP yi-0.1%.Ngamanye amazwi, kukho umndilili wendawo enye ye-SNP kwi-1000 isiseko sesibini.Nangona ukwenzeka rhoqo kuphezulu kakhulu, ayizizo zonke iisayithi ze-SNP ezinokuba ngabamakishi abanxulumene neempawu.Oku kunxulumene ikakhulu nendawo apho i-SNP yenzeka khona.

Ngokwethiyori, i-SNP ingenzeka naphi na kulandelelwano lwe-genome.I-SNP eyenzeka kummandla wekhowudi inokuvelisa ukuguqulwa okufanayo kunye neenguqu ezingabonakaliyo, oko kukuthi, utshintsho lwe-amino acid okanye alutshintshi ngaphambi nangemva kokuguquka.I-amino acid etshintshileyo ihlala ibangela ukuba ikhonkco lepeptide liphulukane nomsebenzi walo woqobo (i-missense mutation), kwaye inokubangela ukulahlwa koguqulo (uguqulo olungenamsebenzi).Ii-SNP ezenzeka kwimimandla engabonakaliyo kunye nemimandla ye-intergenic inokuchaphazela i-mRNA i-splicing, i-non-coding ye-RNA yokulandelelanisa ukubunjwa, kunye nokusebenza kakuhle kwezinto ezibhaliweyo kunye ne-DNA.Ubudlelwane obukhethekileyo buboniswa kumfanekiso:

Iintlobo ze-SNP:

Iindlela ezininzi eziqhelekileyo zokuchwetheza ze-SNP kunye nokuthelekisa kwazo

Ngokwemigaqo eyahlukeneyo, iindlela zokufumanisa i-SNP eziqhelekileyo zohlulwe ngokwezi ndidi zilandelayo:

Ukuthelekisa ukuhlelwa kweendlela zokubona

Qaphela: Uluhlu kwitheyibhile ngoku kusetyenziswa iindlela eziqhelekileyo zokufumanisa i-SNP, ezinye iindlela zokufumanisa ezifana ne-site hybridization (ASH), i-site primer extension extension (ASPE), isandiso sesiseko esisodwa (SBCE), ukusika indawo ethile (ASC), iteknoloji ye-gene chip, iteknoloji ye-mass spectrometry, njl.

Iindleko kunye nexesha lokuhlanjululwa kwe-nucleic acid kwiindlela ezininzi eziqhelekileyo zokufumanisa i-SNP azinakuphepheka.Nangona kunjalo, iikiti ezinxulumeneyo ezisekwe kwitekhnoloji ye-Foregene ethe ngqo ye-PCR inokwenza ngokuthe ngqo i-PCR okanye i-qPCR yokukhulisa iisampulu ezingahlanjululwanga, ezisa uncedo olungazange lubonwe ngaphambili ekubhaqweni kwe-SNP.

Iimveliso ze-PCR ezithe ngqo ze-Foregene zivele kwaye zishiya amanyathelo okucoca iisampulu, ezinciphisa kakhulu ixesha kunye neendleko ezifunekayo ukulungiselela itemplates.I-polymerase ye-Taq ekhethekileyo inekhono elihle lokukhulisa kwaye inokunyamezela iintlobo ezahlukeneyo ze-inhibitors ezivela kwiindawo eziyinkimbinkimbi zokukhulisa.Ezi mpawu zibonelela ngesiqinisekiso sobugcisa bokufumana iimveliso ezithile eziphezulu ze-Foregene Direct PCR / qPCR kwiintlobo ezahlukeneyo zeesampuli, ezifana: izicubu zezilwanyana (umsila wegundane, i-zebrafish, njl.), Amagqabi esityalo, imbewu (kubandakanywa i-polysaccharides kunye neesampuli ze-polyphenol), njl.