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

K12 Standards

Louisiana Student Standards for Science

High School

Life Sciences

Biological Evolution: Unity And Diversity

HS-LS4-1

comparing-copy-number-variations-and-snps

Comparing Copy Number Variations and SNPs

DNA segmentlerinin eklenmesi veya silinmesi gibi genomik varyasyonlar, bir popülasyonda yaygın olarak gözlenir. Bir popülasyondaki genomik varyasyonlar, DNA'daki tek nükleotid değişiklikleri veya kromozomlardaki yapısal değişiklikler nedeniyle ortaya çıkabilir.
Kopya sayısı varyasyonu veya CNV, 1 kilodan fazla baz çiftinin DNA segmentlerini içeren yapısal varyasyonları tanımlayan bir şemsiye terimdir.
İlgili kromozomal segment bir gen içeriyorsa, CNV'ler bu genin kopya sayısını çoğaltma ve yerleştirme yoluyla artırabilir veya boş genotiple sonuçlanan silme yoluyla azaltabilir.
Bu nedenle, bazı bireyler bir genin iki veya daha fazla kopyasına sahip olabilir veya hiç kopya olmayabilir. Örneğin, Avrupa genetik atalarına sahip bazı insanlar, Rhesus kan grubu geninin (RHD) iki kopyasını taşıyabilirken, bazıları sadece bir kopyaya sahip olabilir ve diğerleri hiç olmayabilir.  
CNV, fonksiyonel gen kopyalarının sayısına bağlı olan fenotipleri etkileyebilir. Nişasta bazlı diyetlerin yaygın olduğu Avrupa-Amerika ve Asya bölgelerinde, popülasyon, nişasta metabolizmasında yer alan bir gen olan AMY1 geninin daha yüksek bir kopya sayısını göstermektedir.
CNV'ler ayrıca sedef hastalığı, Parkinson gibi çeşitli hastalıklar ve otizm ve Şizofreni gibi davranış bozuklukları ile bağlantılıdır.
CNV'ler genellikle büyük DNA dizisi varyasyonlarını kapsarken, tek nükleotid polimorfizmleri veya SNP'ler, genom boyunca bulunan rastgele, tek baz ikameleridir.
Bu tür baz ikameleri her 1000 nükleotidde bir kez meydana gelir; ancak, hepsi SNP olarak nitelendirilmez. Genel olarak, yalnızca popülasyonun %1'inden fazlasında bulunan bir nükleotid varyasyonu SNP olarak adlandırılır.
SNP'ler diyabet veya kanser gibi çeşitli hastalıklara neden olabilir. Örneğin, orak hücreli anemisi olan hastalarda, beta-globin geninin belirli bir lokusunda adenin'den timine tek bir baz ikamesi, orak şeklinde kırmızı kan hücrelerine neden olur.

<ol>
	<li>Lee, Charles ve Stephen W. Scherer. "İnsan genomundaki kopya sayısı varyasyonunun klinik bağlamı." Moleküler tıpta uzman incelemeleri 12 (2010).</li>
	<li>Budowle, Bruce ve Angela Van Daal. "Adli olarak ilgili SNP sınıfları." Biyoteknikler 44, hayır. 5 (2008): 603-610.</li>
</ol>

kopya numarası varyasyonlarını ve snp'leri karşılaştırma

İnsan genomunun dizilenmesi, genomun çok iyi saklanan birçok sırrını açığa çıkardı. Bilim insanları bir popülasyonda var olan binlerce genom varyasyonunu tespit etti. Bu varyasyonlar tek bir nükleotit olabileceği gibi daha büyük bir kromozomal varyasyon da olabilir. Kopya numarası varyasyonları veya CNV'ler, 1 kb'den fazla DNA dizisini kapsayan yapısal varyasyonlardır. Tek nükleotit polimorfizmi (SNP) ise popülasyonun %1'inden fazlasında bulunan tek bir nükleotit değişikliği veya nokta mutasyondur. Hem CNV hem de SNP'ler genetik tarama çalışmaları ve akrabalık analizinde son derece değerlidir. <h4>CNV formları. </h4> CNV'lerin beş türü vardır. İlkine silme denir. Bir DNA segmentinin kaybı, bir genin veya bir grup genin kopya sayısını azaltabilir. İkincisine tandem duplikasyon denir. Burada, bir kromozomal segmentin bir kopyası bitişik bir bölgeye eklenir. Üçüncüsü bitişik olmayan duplikasyon olarak adlandırılır. Burada bir kromozomal segment duplike edilir ve uzaktaki bir kromozomal bölgeye veya farklı bir kromozoma eklenir. Dördüncü forma Multialelik CNV denir. Bir DNA segmenti birkaç kez duplikasyona uğrar ve bir genin birden fazla alelinin oluşmasıyla sonuçlanır. Beşinci forma karmaşık yeniden düzenleme denir. Burada DNA'nın bir bölümü, aynı veya farklı kromozoma geri yerleştirilmeden önce duplike edilir ve tersine çevrilir. <h4>Tek Nükleotit Polimorfizmi</h4> Tek Nükleotit Polimorfizmi veya SNP, tek bir nükleotit bazındaki değişiklikleri içeren başka bir genomik varyasyon türüdür. Bilim insanları insan genomunda binlerce SNP tanımladılar ve bunlar rutin olarak kalıtsal hastalıklar ve adli analizler için genetik belirteçler olarak kullanılıyor. Uygulamalarına göre SNP'ler dört türe ayrılır. Kimlik testi SNP'leri insanları ayırt etmek ve insanları aile bağlantılarından çıkarmak için kullanılır. Lineage (köken) bilgilendirici SNP'ler, ailesel bir analizde kayıp bireylerin belirlenmesine yardımcı olan sıkı bağlantılı SNP'lerdir. Ancestry (soy) bilgilendirici SNP'ler, bir kişinin soyunu belirlemeye ve bunu fenotipik özellikleriyle ilişkilendirmeye yardımcı olur. Fenotip bilgilendirici SNP'ler, ten rengi, göz rengi vb. gibi belirli bir fenotipi miras alma olasılığını belirler.

Kopya Numarası Varyasyonlarını ve SNP'leri Karşılaştırma

İnsan genomunun dizilimi, genomun en iyi korunan birkaç sırrını ortaya çıkardı. Bilim adamları, var olan binlerce genom varyasyonunu belirlediler ...

Education

JoVE Core

Molecular Biology

Moleküler Biyoloji

Unit 2

Ünite 2

Genomes and Evolution

Genomlar ve Evrim

KEY TERMS AND CONCEPTS

TEMEL TERİMLER VE KAVRAMLAR

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

evolutionary-relationships-through-genome-comparisons

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genome copying errors

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phylogenetic trees

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synteny and evolution

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Chromosome rearrangements and synteny show how shared gene order can reveal evolutionary history. Synteny means genes are found on the same chromosome, even if they are not genetically linked. John H. Renwick coined the term in 1971. Species with common ancestry often keep conserved syntenic regions. Scientists use synteny to compare the evolutionary relationship between species. Human and mouse lineages split from a common ancestor about 80 million years ago. Since then, the ancestral...

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Conserved DNA across species shows how some genome regions stay nearly unchanged over time. Next-generation sequencing has built large genome databases for many animals and plants. Since the Human Genome Project, scientists have compared the genomes of primates, mammals, and other distant species. These large studies have helped reveal evolutionary relationships between organisms. Although species genomes differ greatly, a few DNA sequences are highly conserved. Conserved DNA sequences found...

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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

molecular biology

JoVE Core Moleküler Biyoloji, hücrenin moleküler süreçlerini açık ve özlü animasyonlu video dersleriyle sergiler. Buna ek olarak, bilim insanı-eylem videolarında, bu kavramların uygulaması modern laboratuvarlarda gerçek deneylerle gösterilmektedir.

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Ohio’s Learning Standards and Model Curriculum

9-12

Biology

Evolution

Speciation

Tennessee Academic Standards

Heredity

BIO1.LS3.2

Virginia  Standards of Learning

HIgh School

BIO.5

BIO.5.d

Minnesota Academic Standards in Science

Life Science

3.2.1 9L.3.2.1.3

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New Jersey Student Learning Standards for Science

Biological Evolution: Unity and Diversity

Arizona Science Standards

HS+B.L4

HS+B.L4U1.13

Next Generation Science Standards

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Heredity: Inheritance and Variation of Traits

HS-LS3-2

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New York State Science Learning Standards

Inheritance and Variation of Traits

HS-LS3-1.

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Gene Flow

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Construct an explanation based on evidence that biological diversity is influenced by (1) the potential for a species to increase in number, (2) the heritable genetic variation of individuals in a species due to mutation and sexual reproduction, (3) competition for limited resources, and (4) the proliferation of those organisms that are better able to survive and reproduce in the environment. Emphasis is on using evidence to explain the influence each of the four factors has on number of organisms, behaviors, morphology, or physiology in terms of ability to compete for limited resources and subsequent survival of individuals and adaptation of species. Examples of evidence could include mathematical models such as simple distribution graphs or proportional reasoning.

HS-LS4-2

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Hardy-Weinberg Principle

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Apply concepts of statistics and probability to support explanations that populations of organisms adapt when an advantageous heritable trait increases in proportion to organisms lacking this trait. Emphasis is on analyzing shifts in numerical distribution of traits and using these shifts as evidence to support explanations for adaptations. Explanations could include basic statistical or graphical analysis.

HS-LS4-3

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Speciation Rates

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Evaluate evidence supporting claims that changes in environmental conditions can affect the distribution of traits in a population causing: (1) increases in the number of individuals of some species, (2) the emergence of new species over time, and (3) the extinction of other species. Emphasis is on determining cause and effect relationships for how changes to the environment such as deforestation, overfishing, application of fertilizers, drought, flood, and the rate of change of the environment affect distribution or disappearance of traits in species.

HS-LS4-5

Genome Variation in CNVs and SNPs

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