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Ma hope o ka manaʻo ʻana o ka ʻAmelika ʻAmelika ʻo Eric S. Lander i kahi nucleotide polymorphism (SNP) ma ke ʻano he kolu o ka hanauna molecular marker i ka makahiki 1996, ua hoʻohana nui ʻia ʻo SNP i ka nānā ʻana i ka hui ʻano waiwai, ke kūkulu ʻana i ka palapala ʻāina pili genetic, a me ka nānā ʻana o ke kanaka pathogenic gene screening., Ka ma'i ma'i a me ka wanana, ka nānā 'ana i ka lā'au ho'okahi, a me nā kahua noi'i ola kino a me ka lā'au.Ma ke kahua o ka hoʻoulu ʻana i ke kālā, hiki i ka ʻike ʻana o SNP ke ʻike i ke koho mua ʻana i nā ʻano pono.Loaʻa i kēia koho nā hiʻohiʻona o ka pololei kiʻekiʻe a hiki ke pale pono i ka hoʻopili ʻana o ka morphology a me nā mea kūlohelohe, no laila e hōʻemi loa i ke kaʻina hana hānau.No laila, he kuleana nui ka SNP ma ke kahua o ka noiʻi kumu.

Hoʻokahi Nucleotide Polymorphism (Single Nucleotide Polymorphism, SNP) e pili ana i ka hanana i loaʻa nā ʻokoʻa nucleotide hoʻokahi i ke kūlana hoʻokahi i ke kaʻina DNA o nā kānaka o nā ʻano like ʻole.ʻO ka hoʻokomo ʻana, ka holoi ʻana, ka hoʻololi ʻana a me ka hoʻohuli ʻana o kahi kumu hoʻokahi hiki ke hoʻololi i kēia ʻokoʻa.I ka wā ma mua, ʻokoʻa ka wehewehe ʻana o SNP mai ka hoʻololi ʻana.Pono kahi wahi ʻokoʻa e ʻoi aku ka nui o ke alapine o kekahi o nā alleles i ka heluna ma mua o 1% i mea e wehewehe ʻia ai he wahi SNP.Eia nō naʻe, me ka hoʻonui ʻia o nā manaʻo biological hou a me ka hoʻohana ʻana i ka ʻenehana, ʻaʻole pono ke alapine allele i mea e kaupalena ʻia ai ka wehewehe ʻana o SNP.E like me ka ʻikepili hoʻololi nucleotide hoʻokahi i hoʻokomo ʻia i loko o ka waihona Single Nucleotide Polymorphisms (dbSNP) ma lalo o ka National Center for Biotechnology Information (NCBI), hoʻokomo ʻia ka haʻahaʻa haʻahaʻa / holoi ʻana, microsatellite variation, etc.

SNP molecular lepili a me ka ʻike1

I loko o ke kino kanaka, ʻo ka pinepine o SNP he 0.1%.I nā huaʻōlelo ʻē aʻe, aia ka awelika o hoʻokahi pūnaewele SNP no 1000 base pairs.ʻOiai he kiʻekiʻe ke alapine o ka hanana ʻana, ʻaʻole hiki i nā pūnaewele SNP āpau ke lilo i mau māka moho e pili ana i nā ʻano.ʻO ka mea nui e pili ana i kahi i loaʻa ai ka SNP.

ʻO ka manaʻo, hiki ke loaʻa ka SNP ma nā wahi āpau o ka genome sequence.Hiki i nā SNP i loaʻa i ka ʻāpana coding ke hana i nā hoʻololi like ʻole a me nā hoʻololi like ʻole, ʻo ia hoʻi, hoʻololi a hoʻololi ʻole ka amino acid ma mua a ma hope o ka hoʻololi ʻana.ʻO ka ʻakika amino i hoʻololi ʻia ke kumu e nalowale ai ke kaulahao peptide i kāna hana kumu (missense mutation), a hiki ke hoʻopau i ka unuhi ʻana (nonsense mutation).Hiki i nā SNP i loaʻa ma nā ʻāina non-coding a me nā ʻāpana intergenic ke hoʻopili i ka mRNA splicing, non-coding RNA sequence haku mele, a me ka pono paʻa o nā mea transcription a me DNA.Hōʻike ʻia ka pilina kikoʻī ma ke kiʻi:

Nā ʻano SNP:

SNP molecular lepili a me ka ʻike ʻana2

Nui nā ʻano hana paʻi SNP maʻamau a me kā lākou hoʻohālikelike

Wahi a nā loina like ʻole, ua hoʻokaʻawale ʻia nā ʻano ʻike SNP maʻamau i nā ʻāpana aʻe:

Hoʻohālikelike hoʻohālikelike o nā ʻano ʻike

SNP molecular lepili a me ka ʻike3

'Ōlelo Aʻo: Hoʻohana ʻia nā ʻano ʻike SNP maʻamau i helu ʻia ma ka papa ʻaina, nā ʻano ʻike ʻē aʻe e like me ka hybridization pūnaewele kikoʻī (ASH), ka hoʻonui ʻia ʻana o kahi kahua kikoʻī (ASPE), ka hoʻonui ʻia kumu hoʻokahi (SBCE), ka ʻoki pūnaewele kikoʻī (ASC), ka ʻenehana chip gene, mass spectrometry technology, etc.

ʻAʻole hiki ke pale ʻia ke kumukūʻai a me ka manawa o ka hoʻomaʻemaʻe ʻana i ka waika nucleic ma luna o nā ʻano ʻike SNP maʻamau.Eia nō naʻe, hiki i nā pahu pili i pili i ka ʻenehana PCR pololei a Foregene ke hana pololei i ka PCR a i ʻole qPCR amplification ma nā laʻana i hoʻomaʻemaʻe ʻole ʻia, e lawe mai i ka ʻoluʻolu ʻole i ka ʻike SNP.

ʻO nā huahana PCR pololei a Foregene e waiho maʻalahi a haʻalele i nā hana hoʻomaʻemaʻe laʻana, e hōʻemi nui ana i ka manawa a me ke kumukūʻai e pono ai e hoʻomākaukau i nā mamana.ʻO ka Taq polymerase kūʻokoʻa he mana hoʻonui maikaʻi loa a hiki ke ʻae i nā ʻano inhibitors mai nā kaiapuni hoʻonui paʻakikī.Hāʻawi kēia mau hiʻohiʻona i kahi hōʻoia ʻenehana no ka loaʻa ʻana o nā huahana kikoʻī kiʻekiʻe. Foregene Direct PCR / qPCR kits no nā ʻano laʻana like ʻole, e like me: nā ʻiʻo holoholona (tail tail, zebrafish, etc.), nā lau kanu, nā hua (me nā polysaccharides a me nā polyphenol samples), etc.


Ka manawa hoʻouna: Iulai-23-2021