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

Quando vários genomas humanos são comparados, há variações observadas nas sequências.
As variações devido à substituição de um nucleotídeo são chamadas de polimorfismos de nucleotídeo único, ou SNPs.
Variações devido à inserção ou deleção de uma sequência de nucleotídeos com menos de um quilobase de comprimento são chamadas de indel.
Se uma inserção ou deleção de nucleotídeos for copiada um número variável de vezes no mesmo genoma, isso é chamado de variação do número de cópias ou CNV. Freqüentemente, as CNVs envolvem grandes trechos de DNA com mais de um quilobase de comprimento.
Um haplótipo é um conjunto de genes herdados de um único pai. Um genoma pode ser dividido em blocos de haplótipos que contêm grupos de polimorfismos.
Como poucos cruzamentos ocorrem entre cromossomos homólogos durante cada meiose, os blocos de haplótipos foram herdados em um grupo ligado ao longo das gerações.

<ol>
	<li>"Genes candidatos e polimorfismos de nucleotídeo único (SNPs) no estudo de doenças humanas." Marcadores de doenças 17, nº 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 et al. "Quasiespécies de SARS-CoV-2 reveladas por análise de polimorfismos de nucleotídeo único (SNPs)." Virulência 12, nº 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>

polimorfismos de nucleotídeo Único-snps

Um polimorfismo de nucleotídeo único ou SNP é uma variação de nucleotídeo único em uma posição genômica específica em uma grande população. É o tipo mais prevalente de variação de sequência encontrada no genoma humano. Mutações pontuais que ocorrem em mais de 1% da população são qualificadas como SNPs. Eles estão presentes em média uma vez a cada 1.000 nucleotídeos no genoma humano. A substituição de uma purina por outra purina (A/G) ou de uma pirimidina por outra pirimidina (C/T) é conhecida como transição. Em contraste, a substituição de uma purina por uma pirimidina (A ou G/C ou T) ou vice-versa é chamada de transversão. Nos SNPs, as transições são mais proeminentes que as transversões. Diferentes métodos são utilizados para estudar as variações genéticas presentes no genoma, também conhecidas como genotipagem. Ao contrário dos SNPs, as repetições em tandem únicas (STRs) envolvem repetições de di, tri ou tetranucleotídeos. Os cientistas costumam usar a genotipagem de SNPs em vez de STRs, pois os SNPs são mais abundantes e estáveis, e alguns SNPs afetam diretamente o fenótipo. Na maioria das vezes, os SNPs são encontrados em íntrons, que não codificam nenhuma proteína. Tais SNPs podem ser usados como marcadores biológicos para localizar genes associados a uma doença específica. Se o SNP estiver presente num gene ou numa sequência reguladora próxima do gene, pode afetar a sua função e causar doenças.

Polimorfismos de Nucleotídeo Único-SNPs

Um polimorfismo de nucleotídeo único ou SNP é uma variação de nucleotídeo único em uma posição genômica específica em uma grande população. É o mais prevalente ...

Education

JoVE Core

Molecular Biology

Biologia Molecular

Unit 2

Unidade 2

Analyzing Gene Expression and Function

Analisando a Expressão e a Função Gênica

KEY TERMS AND CONCEPTS

TERMOS-CHAVE E CONCEITOS

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

molecular biology

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CRISPR

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SNPs as Genetic Markers and Variants

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