Name: snps as genetic markers and variants
Uploaded: 2021-04-07T12:12:00.000Z
Duration: 1 min 5 s
Channel: JoVE
Description: Single nucleotide polymorphisms, or SNPs, are small DNA changes at one specific genomic position. They are the most common type of sequence variation in the human genome. A point mutation counts as an SNP when it appears in more than 1% of the population.

K12 Standards

Arizona Science Standards

High School

Life Science

HS.L3

HS.L3U3.26

Single Nucleotide Polymorphisms-SNPs

Kiedy porównuje się wiele ludzkich genomów, obserwuje się różnice w sekwencjach.
Zmiany spowodowane podstawieniem jednego nukleotydu nazywane są polimorfizmami pojedynczego nukleotydu lub SNP.
Wariacje spowodowane insercją lub usunięciem sekwencji nukleotydów o długości mniejszej niż jedna kilozasada nazywana są indelem.
Jeśli insercja lub delecja nukleotydów jest kopiowana zmienną liczbę razy w tym samym genomie, nazywa się to zmiennością liczby kopii lub CNV. Często CNV obejmują duże odcinki DNA o długości większej niż jeden kilozasada.
Haplotyp to zestaw genów odziedziczonych po jednym rodzicu. Genom można podzielić na bloki haplotypów, które zawierają klastry polimorfizmów.
Ponieważ podczas każdej mejozy dochodzi do niewielu krzyżówek między chromosomami homologicznymi, bloki haplotypów są dziedziczone w połączonej grupie z pokolenia na pokolenie.

<ol>
	<li>Chanock, Szczepan. "Geny kandydujące i polimorfizmy pojedynczych nukleotydów (SNP) w badaniu chorób człowieka." Markery choroby 17, nr 2 (2001): 89-98. <a href="https://downloads.hindawi.com/journals/dm/2001/858760.pdf">https://downloads.hindawi.com/journals/dm/2001/858760.pdf</a></li>
	<li>Gao, Rongsui, Wenhong Zu, Yang Liu, Junhua Li, Zeyao Li, Yanling Wen, Haiyan Wang i in. "Quasigatunki SARS-CoV-2 ujawnione przez analizę polimorfizmów pojedynczego nukleotydu (SNP)". Zjadliwość 12, nr 1 (2021): 1209-1226. <a href="https://www.tandfonline.com/doi/full/10.1080/21505594.2021.1911477">https://www.tandfonline.com/doi/full/10.1080/21505594.2021.1911477</a></li>
</ol>

polimorfizmy pojedynczych nukleotydów – snp

Polimorfizm pojedynczego nukleotydu, czyli SNP, to odmiana pojedynczego nukleotydu w określonej pozycji genomowej w dużej populacji. Jest to najbardziej rozpowszechniony typ zmienności sekwencji występujący w ludzkim genomie. Mutacje punktowe występujące u więcej niż 1% populacji kwalifikują się jako SNP. Występują one średnio raz na 1000 nukleotydów w ludzkim genomie. Zastąpienie puryny inną puryną (A/G) lub pirymidyny inną pirymidyną (C/T) nazywa się przejściem. Natomiast podstawienie puryny pirymidyną (A lub G/C lub T) lub odwrotnie nazywa się transwersją. W SNP przejścia są bardziej widoczne niż transwersje. Do badania zmienności genetycznej występującej w genomie stosuje się różne metody, znane również jako genotypowanie. W przeciwieństwie do SNP, pojedyncze powtórzenia tandemowe (STR) obejmują powtórzenia di-, tri- lub tetranukleotydowe. Naukowcy często używają genotypowania SNP zamiast STR, ponieważ SNP są liczniejsze i stabilne, a niektóre SNP bezpośrednio wpływają na fenotyp. W większości przypadków SNP znajdują się w intronach, które nie kodują żadnego białka. Takie SNP można wykorzystać jako markery biologiczne do lokalizacji genów związanych z konkretną chorobą. Jeśli SNP jest obecny w genie lub w sekwencji regulatorowej w pobliżu genu, może wpływać na jego funkcję i powodować chorobę.

Polimorfizmy pojedynczych nukleotydów – SNP

Polimorfizm pojedynczego nukleotydu lub SNP to odmiana pojedynczego nukleotydu w określonej pozycji genomowej w dużej populacji. Jest to najbardziej rozpowszechniony ...

Education

JoVE Core

Molecular Biology

Biologia molekularna

Unit 2

Jednostka 2

Analyzing Gene Expression and Function

Analiza ekspresji i funkcji genów

KEY TERMS AND CONCEPTS

Kluczowe terminy i pojęcia

snps as genetic markers and variants

Single nucleotide polymorphisms, or SNPs, are small DNA changes at one specific genomic position. They are the most common type of sequence variation in the human genome. A point mutation counts as an SNP when it appears in more than 1% of the population.

SNPs as Genetic Markers and Variants

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Single nucleotide polymorphisms, or SNPs, are small DNA changes at one specific genomic position. They are the most common type of sequence variation in the human genome. A point mutation counts as an SNP when it appears in more than 1% of the population.

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key terms and concepts

Explore SNPs as common DNA variants, including transitions, transversions, and how they help scientists find genes linked to disease.

SNPs as Genetic Markers and Variants | JoVE K12

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SNPs as Genetic Markers and Variants

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