Ka dib markii aqoonyahanka Maraykanka Eric S. Lander uu si rasmi ah u soo jeediyay hal nucleotide polymorphism (SNP) oo ah jiilka saddexaad ee 1996, SNP ayaa si weyn loogu isticmaalay falanqaynta ururka dhaqaalaha, dhismaha khariidadda isku xirka hidda-socodka, iyo baaritaanka hidda-socodka aadanaha., Baadhitaanka iyo saadaalinta khatarta cudurrada, baadhista daroogada ee shakhsi ahaaneed, iyo qaybaha kale ee cilmi-baarista nafleyda iyo caafimaadka.Dhinaca taranta dalagga lacagta caddaanka ah, ogaanshaha SNP waxay xaqiijin kartaa xulashada hore ee sifooyinka loo baahan yahay.Xulashadani waxay leedahay sifooyin saxnaan sare leh waxayna si wax ku ool ah uga fogaan kartaa faragelinta morphology iyo arrimaha deegaanka, taas oo si weyn u soo gaabinaysa habka taranka.Sidaa darteed, SNP waxay door weyn ka ciyaartaa dhinaca cilmi-baarista aasaasiga ah.

Hal Nucleotide Polymorphism (Single Nucleotide Polymorphism, SNP) waxaa loola jeedaa ifafaale in ay jiraan kala duwanaansho hal nucleotide ah oo isku mid ah oo isku mid ah taxanaha DNA ee shakhsiyaadka isku midka ah ama noocyada kala duwan.Gelida, tirtirka, beddelka iyo rogidda hal saldhig ayaa dhamaantood keeni kara farqigan.Waagii hore, qeexitaanka SNP wuu ka duwanaa kan isku beddelka.Kala duwanaanshiyaha goobta ayaa u baahan in inta jeer ee mid ka mid ah alleles ee dadweynaha ay ka badan tahay 1% si loogu qeexo goobta SNP.Si kastaba ha ahaatee, ballaarinta aragtiyaha noole ee casriga ah iyo adeegsiga tignoolajiyada, inta jeer ee allele ma aha xaalad lagama maarmaan ah si loo xaddido qeexida SNP.Marka loo eego xogta kala duwanaanshaha nucleotide-ka keliya ee lagu daray kaydka Hal Nucleotide Polymorphisms (dbSNP) ee hoos yimaada Xarunta Qaranka ee Macluumaadka Biotechnology (NCBI), gelinta / tirtirka-soo noqnoqda hooseeya, kala duwanaanshaha microsatellite, iwm ayaa sidoo kale lagu daray.

Jirka bini'aadamka, inta jeer ee SNP waa 0.1%.Si kale haddii loo dhigo, waxaa jira celcelis ahaan hal goob SNP 1000kii lammaane ee saldhigga ah.In kasta oo inta jeer ee dhacdadu ay aad u sarreyso, dhammaan goobaha SNP ma noqon karaan calamadaha musharraxiinta ee la xidhiidha sifooyinka.Tani waxay inta badan la xiriirta meesha uu SNP ka dhaco.

Fikrad ahaan, SNP waxay ku dhici kartaa meel kasta oo isku xigta genome ah.SNP-yada ka dhaca gobolka cod-bixinta waxay soo saari karaan isbeddello isku mid ah iyo isbeddello aan isku mid ahayn, taas oo ah, amino acid-ka ayaa isbeddela ama isbeddela ka hor iyo ka dib beddelka.Amino acid-ka la beddelay ayaa caadi ahaan sababa in silsiladda peptide-ka ay lumiso shaqadeedii asalka ahayd (isbeddelka khaldan), waxa kale oo laga yaabaa inay keento turjumaadda ilmo iska soo rididda (isbeddel aan macno lahayn).SNP-yada ka dhaca gobollada aan codeeyn iyo gobollada intergenic waxay saameyn karaan kala-soocida mRNA, isku dhafka isku xigxiga ee RNA-da ee aan codeeyn, iyo hufnaanta isku xirnaanta qodobbada qoraalka iyo DNA.Xiriirka gaarka ah ayaa lagu muujiyay sawirka:

Noocyada SNP:

Dhowr hab oo wax lagu qoro SNP caadi ah iyo isbarbardhiggooda

Marka loo eego mabaadi'da kala duwan, hababka ogaanshaha guud ee SNP waxaa loo qaybiyaa qaybaha soo socda:

Isbarbardhigga kala soocida hababka ogaanshaha

Fiiro gaar ah: Ku taxan shaxda ayaa hadda la isticmaalaa hababka ogaanshaha SNP ee caadiga ah, hababka kale ee lagu ogaanayo sida iskudhafka goobta gaarka ah (ASH), kordhinta goobta gaarka ah (ASPE), kordhinta hal saldhig (SBCE), gooynta goobta gaarka ah (ASC), tignoolajiyada hidda-wadaha, tignoolajiyada mass spectrometry, iwm.

Qiimaha iyo wakhtiga nadiifinta aashitada nukliyeerka ee hababka ogaanshaha SNP ee badan ee kor ku xusan waa lama huraan.Si kastaba ha ahaatee, xirmooyinka la xiriira ee ku saleysan tignoolajiyada tooska ah ee Foregene ee PCR waxay si toos ah u fulin karaan PCR ama qPCR kordhinta muunado aan la nadiifin, taas oo u keenta raaxo aan horay loo arag oo lagu ogaanayo SNP.

Alaabooyinka taxanaha PCR ee tooska ah ee Foregene si fudud oo qiyaas ahaan u dhaafaya tillaabooyinka nadiifinta muunada, taas oo aad u yaraynaysa wakhtiga iyo kharashka loo baahan yahay si loo diyaariyo qaab-dhismeedka.Taq-polymerase-ka gaarka ah wuxuu leeyahay awood-weyneyn aad u wanaagsan wuxuuna u dulqaadan karaa noocyo kala duwan oo ka-hortagayaal ah oo ka yimaadda bay'ada xoojinta adag.Tilmaamahani waxay bixiyaan dammaanad farsamo oo lagu helo alaabooyin gaar ah oo wax-soo-saar sare leh.Foregene Direct PCR / qPCR xirmooyinka noocyada kala duwan ee muunada, sida: unugyada xayawaanka (dabada jiirka, zebrafish, iwm.), caleemaha dhirta, miraha (oo ay ku jiraan polysaccharides iyo shaybaarada polyphenol), iwm.