Name: genome variation in cnvs and snps
Uploaded: 2021-04-07T12:11:59.000Z
Duration: 2 min 26 s
Channel: JoVE

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comparing-copy-number-variations-and-snps

Comparing Copy Number Variations and SNPs

Zmiany genomowe, takie jak dodawanie lub usuwanie segmentów DNA, są powszechnie obserwowane w populacji. Różnice genomowe w populacji mogą powstać z powodu zmian pojedynczego nukleotydu w DNA lub zmian strukturalnych chromosomów.
Zmienność liczby kopii lub CNV to ogólny termin, który określa zmiany strukturalne obejmujące segmenty DNA o długości większej niż 1 kilogram pary zasad.
Jeśli zaangażowany segment chromosomalny zawiera gen, CNV mogą zwiększyć liczbę kopii tego genu przez duplikację i insercję lub zmniejszyć ją przez delecję, co skutkuje genotypem zerowym.
Dlatego niektóre osoby mogą mieć dwie lub nawet więcej kopii genu lub nie mieć ich wcale. Na przykład niektórzy ludzie o europejskim pochodzeniu genetycznym mogą być nosicielami dwóch kopii genu grupy krwi Rh, RHD, podczas gdy niektórzy mogą mieć tylko jedną, a inni nie mieć jej wcale.  
CNV może wpływać na fenotypy, które są zależne od liczby funkcjonalnych kopii genów. W regionach europejsko-amerykańskich i azjatyckich, gdzie dieta oparta na skrobi jest powszechna, populacja wykazuje większą liczbę kopii genu AMY1, genu biorącego udział w metabolizmie skrobi.
CNV są również związane z kilkoma chorobami, takimi jak łuszczyca, choroba Parkinsona i zaburzenia zachowania, takie jak autyzm i schizofrenia.
Podczas gdy CNV zwykle obejmują duże zmiany sekwencji DNA, polimorfizmy pojedynczego nukleotydu lub SNP są losowymi, pojedynczymi podstawieniami zasad występującymi w całym genomie.
Takie podstawienia zasad zachodzą raz na 1000 nukleotydów, jednak nie wszystkie z nich kwalifikują się jako SNP. Ogólnie rzecz biorąc, tylko odmiana nukleotydów, która występuje u więcej niż 1% populacji, jest określana jako SNP.
SNP mogą powodować różne choroby, takie jak cukrzyca lub rak. Na przykład u pacjentów z niedokrwistością sierpowatokrwinkową substytucja pojedynczej zasady z adeniny do tyminy w określonym locus genu beta-globiny powoduje sierpowate czerwone krwinki.

<ol>
	<li>Lee, Charles i Stephen W. Schererowie. "Kontekst kliniczny zmienności liczby kopii w ludzkim genomie." Opinie ekspertów z medycyny molekularnej 12 (2010).</li>
	<li>Budowle, Bruce i Angela Van Daal. "Zajęcia SNP istotne z punktu widzenia kryminalistyki". Biotechniki 44, nr 5 (2008): 603-610.</li>
</ol>

porównanie wariantów liczby kopii i polimorfizm pojedynczego nukleotydu (snp)

Sekwencjonowanie ludzkiego genomu odsłoniło kilka najlepiej strzeżonych tajemnic genomu. Naukowcy zidentyfikowali tysiące odmian genomu występujących w populacji. Różnice te mogą obejmować pojedynczy nukleotyd lub większą odmianę chromosomalną. Zmiany liczby kopii lub CNV to zmiany strukturalne, które obejmują więcej niż 1 kb sekwencji DNA. Z drugiej strony polimorfizm pojedynczego nukleotydu (SNP) to zmiana pojedynczego nukleotydu lub mutacja punktowa występująca u ponad 1% populacji. Zarówno CNV, jak i SNP są niezwykle cenne w genetycznych badaniach przesiewowych i analizie pokrewieństwa. <h4>Formy CNV </h4> Istnieje pięć form CNV. Pierwsza nazywa się delacją. Utrata segmentu DNA może zmniejszyć liczbę kopii genu lub grupy genów. Drugie nazywa się duplikacją tandemową. Tutaj kopia segmentu chromosomu jest wstawiana do sąsiedniego regionu. Trzecia metoda nazywana jest duplikacją nieciągłą. Tutaj segment chromosomu duplikuje się i wstawia do odległego regionu chromosomu lub innego chromosomu. Czwarta forma nazywa się wieloalleliczną CNV. Segment DNA powiela się kilka razy, w wyniku czego powstaje wiele alleli genu. Piąta forma nazywana jest złożoną rearanżacją. Tutaj segment DNA duplikuje się i odwraca, zanim zostanie ponownie wstawiony do tego samego lub innego chromosomu. <h4>Polimorfizm pojedynczego nukleotydu</h4> Polimorfizm pojedynczego nukleotydu lub SNP to inny rodzaj zmienności genomowej obejmujący zmiany w pojedynczej zasadzie nukleotydowej. Naukowcy zidentyfikowali tysiące SNP w całym ludzkim genomie i są one rutynowo wykorzystywane jako markery genetyczne chorób dziedzicznych oraz w analizach kryminalistycznych. W zależności od zastosowania SNP dzieli się na cztery typy. SNP do testowania tożsamości służą do różnicowania ludzi i eliminowania ich z powiązań rodzinnych. SNP informujące o pochodzeniu to ściśle powiązane SNP, które pomagają identyfikować zaginione osoby w analizie rodzinnej. SNP informujące o przodkach pomagają ustalić pochodzenie danej osoby i powiązać je z jej cechami fenotypowymi. SNP informujące o fenotypie ustalają prawdopodobieństwo odziedziczenia określonego fenotypu, takiego jak kolor skóry, kolor oczu itp.

Porównanie wariantów liczby kopii i Polimorfizm pojedynczego nukleotydu (SNP)

Sekwencjonowanie ludzkiego genomu ujawniło kilka najlepiej strzeżonych tajemnic genomu. Naukowcy zidentyfikowali tysiące wariantów genomu, które istnieją ...

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genome variation in cnvs and snps

Genome variation in CNVs and SNPs shows how DNA can differ across people in a population. These differences may involve a single nucleotide, which is one DNA base, or a larger chromosomal change. Scientists study them to understand inherited variation in the human genome.

Copy number variations, or CNVs, are structural changes that cover more than 1 kb of DNA sequence. A CNV can change the number of copies of a gene or a group of genes. The main forms are deletion, tandem duplication, noncontiguous duplication, multiallelic CNV, and complex rearrangement.

A deletion removes a DNA segment and can lower gene copy number. In tandem duplication, a copied chromosomal segment is inserted next to the original region. In noncontiguous duplication, the copied segment moves to a distant chromosomal region or even a different chromosome. Multiallelic CNV creates several copies and can produce multiple alleles of a gene. In complex rearrangement, a segment duplicates and inverts before it is inserted back into the same or a different chromosome.

Single nucleotide polymorphism, or SNP, is another genomic variation that changes one nucleotide base. A SNP is a point mutation found in more than 1% of the population. Scientists have identified thousands of SNPs across the human genome, and they are widely used as genetic markers in studies of inherited disease and forensic analysis.

SNPs are grouped by use into four types. Identity-testing SNPs help distinguish people and exclude familial connections. Lineage informative SNPs are tightly linked SNPs that help identify missing individuals in family analysis. Ancestry informative SNPs help connect a person's ancestry with related phenotypic traits. Phenotype informative SNPs help estimate the chance of traits such as skin color or eye color.

Genome Variation in CNVs and SNPs

evolutionary relationships through genome comparisons

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comparing copy number variations and snps

Genome variation in CNVs and SNPs shows how DNA can differ across people in a population. These differences may involve a single nucleotide, which is one DNA base, or a larger chromosomal change. Scientists study them to understand inherited variation in the human genome. Copy number variations, or CNVs, are structural changes that cover more than 1 kb of DNA sequence. A CNV can change the number of copies of a gene or a group of genes. The main forms are deletion, tandem duplication,...

key terms and concepts

Explore how copy number variations and SNPs change the human genome, from deletions and duplications to ancestry, identity, and phenotype markers.

Genome Variation in CNVs and SNPs | JoVE K12

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HS-LS4-5

Genome Variation in CNVs and SNPs

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