Name: using snp patterns to link disease risk
Uploaded: 2023-04-30T10:14:43.000Z
Duration: 1 min 11 s
Channel: JoVE

K12 Standards

Arizona Science Standards

High School

Life Science

HS.L3

HS.L3U3.26

Genome-wide Association Studies-GWAS

في بعض الأحيان ، يمكن أن تساعد تعدد الأشكال داخل كتلة النمط الفرداني في العثور على جين مسؤول عن أمراض معينة - مثل الهيموفيليا. لتعقب هذه الجينات ، يمكن للباحثين إجراء دراسات سكانية.
على سبيل المثال ، يتم إجراء دراسات الارتباط على مستوى الجينوم ، أو GWAS ، لربط اختلافات جينية محددة بالمرض.
في هذا النهج ، يستخدم الباحثون مجموعتين دراسيتين كبيرتين: الأشخاص المصابون بالمرض المعني ومجموعة مماثلة من الأشخاص غير المصابين بالمرض.
يتم عزل عينات الحمض النووي من كل مشارك في الدراسة وتسلسلها قبل مسح الجينومات بحثا عن تعدد الأشكال
إذا ظهرت بعض تعدد الأشكال بشكل متكرر في الأفراد المصابين بالمرض مقارنة بالأفراد الأصحاء ، فعندئذ يقال إن هذه النيوكلوبايت مرتبطة بالمرض.
في حين أنه من الممكن أن تكون هذه النيوكلوبايت هي التي تسبب الحالة ، فمن المرجح أنها جزء من كتلة النمط الفرداني التي قد تحتوي على المتغير السببي.

<ol>
	<li>ماكاليستر وكيت وستيفن آير وجيزيلا أوروزكو. "علم الوراثة لالتهاب المفاصل الروماتويدي: GWAS وما بعده". علم الروماتيزم المفتوح: الأبحاث والمراجعات 3 (2011): 31.</li>
	<li>بوش ، ويليام س. ، وجيسون إتش مور. "دراسات الارتباط على مستوى الجينوم." PLoS Comput Biol 8 ، رقم 12 (2012): e1002822.</li>
</ol>

دراسات الارتباط على مستوى الجينوم-gwas

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تُستخدم دراسات الارتباط على مستوى الجينوم أو GWAS لتحديد ما إذا كانت تعدد الأشكال الشائعة مرتبطة بأمراض معينة. لنفترض أن تعدد الأشكال المحددة يتم ملاحظته بشكل متكرر في الأفراد المصابين بمرض معين مقارنة بأولئك الذين لا يعانون من المرض. في هذه الحالة، يُقال إن تلك الأشكال من تعدد الأشكال (SNPs-تعدد أشكال النوكليوتيد المفردة) مرتبطة بالمرض. يتم إجراء تحليل مربع كاي للتحقق من احتمالية ارتباط الأليل بالمرض.

لا يتطلب نظام GWAS تحديد الجين المستهدف المتضمن في النمط الظاهري للمرض. فهو يحدد SNP المرتبط بالمرض ويساعد في تحديد الأفراد المعرضين للخطر. تعمل هذه الطريقة على تبسيط تحديد الجينات المستهدفة، وهو ما يستغرق وقتًا طويلاً وغير دقيق في كثير من الحالات. تم استخدام GWAS لتحديد SNPs المرتبطة بزيادة خطر احتشاء عضلة القلب. حددت GWAS أيضًا تعدد الأشكال المرتبطة بداء السكري من النوع 2، ومرض باركنسون، واضطرابات القلب الأخرى، والسمنة، ومرض كرون، وسرطان البروستاتا.

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دراسات الارتباط على مستوى الجينوم-GWAS

تستخدم دراسات الارتباط على مستوى الجينوم أو GWAS لتحديد ما إذا كانت تعدد الأشكال الشائعة مرتبطة بأمراض معينة. لنفترض أن تعدد الأشكال المحددة أكثر ...

Education

JoVE Core

Molecular Biology

البيولوجيا الجزيئية

Unit 2

الوحدة الثانية

Analyzing Gene Expression and Function

تحليل التعبير الجيني ووظيفته

KEY TERMS AND CONCEPTS

المصطلحات والمفاهيم الأساسية

using snp patterns to link disease risk

Genome-wide association studies, or GWAS, look for common SNPs, or single nucleotide polymorphisms, that may be linked to disease. Researchers compare how often a SNP appears in people with a disease and in people without it. When a SNP is seen more often in the disease group, it is considered associated with that disease.

GWAS uses chi-square analysis to test the chance that an allele is linked to the disease. This approach does not require scientists to first find the target gene behind the disease trait. Instead, it helps point to the SNP tied to risk and can help identify individuals who may be at higher risk.

This method can make gene finding easier, since searching for the target gene can take a long time and may not be accurate in many cases. GWAS has been used to find SNPs linked to an increased risk of myocardial infarction. It has also identified SNPs associated with type 2 diabetes, Parkinson's disease, other heart disorders, obesity, Crohn's disease, and prostate cancer.

Using SNP Patterns to Link Disease Risk

in vitro mutagenesis

In Vitro Mutagenesis for Gene Analysis

In vitro mutagenesis is a lab method used to change DNA and study gene function. It helps scientists test how specific DNA changes affect a gene’s activity and the traits it controls. A common approach is to make a known change in a DNA sequence and then examine the result. This can be done by deleting, inserting, or altering selected bases in a gene. The method is useful for linking a DNA change to a biological effect. Researchers use in vitro mutagenesis in molecular biology, genetics, and...

genetic screens

Using Genetic Screens to Find Disease Genes

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Test Cross in Genetic Inheritance

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single nucleotide polymorphisms-snps

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.

bacterial transformation

Bacterial Transformation in the Lab

Bacterial transformation is a lab method used to move new DNA into bacteria. Scientists use it to change how bacteria behave or to help them carry a gene of interest. In high school biology, this process is often shown with plasmids, which are small circular DNA molecules. During transformation, bacteria take up DNA from their surroundings. The new DNA can then be used by the cell, depending on the experiment. This technique is an important part of genetic engineering and is widely used in...

transgenic organisms

Making Transgenic Organisms

Transgenic organisms are living things with DNA added from another organism. A transgene is the inserted gene. Scientists use this method to change an organism’s traits and to study how genes work. To make a transgenic organism, researchers first identify the gene they want to add. They then place that gene into the target organism’s DNA. Once the gene is integrated, the organism can pass it to new cells as it grows. This approach is useful in biology because it helps scientists analyze gene...

reproductive cloning

Cloning an Organism by Reproduction

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crispr

CRISPR Gene Editing Basics

CRISPR is a gene editing tool that helps scientists make targeted changes to DNA. It uses a guide system to find a chosen sequence and a cutting protein to act at that spot. This method is based on a natural defense system found in bacteria. In high school biology, it is often studied as a way to see how genes can be edited with precision. CRISPR is widely used in molecular biology research. It helps scientists explore how genes function and how DNA changes can affect living things.

experimental rnai

RNAi for Gene Silencing and Discovery

RNA interference (RNAi) is a gene-silencing process used to reduce gene expression. It can block transcription or trigger RNA degradation. Scientists first discovered this mechanism in plants in 1998 through Andrew Fire and Craig Mello. RNAi has since been found in many eukaryotes, including protozoa, flies, nematodes, insects, parasites, and mammals. Researchers use it as a practical tool to study gene function. It can show what a gene does without permanently changing the organism’s DNA. <br...

reporter genes

Reporter Genes in Cells and Plasmids

Reporter genes are protein-coding genes used to track gene activity in cells. They are often tagged to a gene of interest so scientists can see whether that gene is present or active. When the tagged genes are expressed together, reporter genes can produce visible signals such as fluorescence or luminescence. These signals help show the presence or absence of a gene of interest in an organism. They can also reveal the pattern of gene expression or the location of a DNA segment or protein...

in-situ hybridization

ISH Probes for DNA and RNA Detection

In situ hybridization (ISH) uses labeled probes to detect and localize specific DNA or RNA molecules in cells, tissues, or tissue sections. The probe is a complementary strand of DNA or RNA that binds to a matching nucleotide sequence in the sample. Since its first use in 1969 for nucleic acid studies, ISH has become an important tool in research and in clinical diagnosis. Several probe types can be used in ISH. These include single-stranded DNA probes, double-stranded DNA probes, antisense...

chromatin immunoprecipitation- chip

ChIP Methods for DNA-Protein Binding

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synthetic biology

Synthetic Biology in Crops and Cells

Synthetic biology combines engineering, molecular biology, cell biology, and systems biology to redesign living systems. Scientists use it to remodel organisms from nature or to build new synthetic organisms. These tools can support protein or enzyme production, bioremediation, the production of useful macromolecules, and the addition of helpful traits to crops. One well-known example is golden rice. This genetically modified rice plant makes grains rich in β-carotene, which is a precursor of...

ribosome profiling

Ribosome Profiling for Translation Snapshot

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transgenic plants

Transgenic Plants for Better Crops

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gene therapy

Gene Therapy for Disease Treatment

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epistasis analysis

Gene Interaction Maps in Epistasis

Gene interaction maps in epistasis show how different genes work together to shape a phenotype. In epistasis, the interaction of genes or alleles at different locations affects the final trait. This often happens when one gene masks or interferes with the expression of another gene. Epistasis is common when genes are part of the same biochemical pathway. In that case, the expression of one gene can depend on a gene product made earlier in the pathway. Genes that mask or inhibit other genes in...

genome-wide association studies-gwas

Genome-wide association studies, or GWAS, look for common SNPs, or single nucleotide polymorphisms, that may be linked to disease. Researchers compare how often a SNP appears in people with a disease and in people without it. When a SNP is seen more often in the disease group, it is considered associated with that disease. GWAS uses chi-square analysis to test the chance that an allele is linked to the disease. This approach does not require scientists to first find the target gene behind the...

key terms and concepts

Learn how GWAS compares SNP patterns between people with and without disease to find genetic links to risk, using chi-square analysis and real disease examples.

Using SNP Patterns to Link Disease Risk | JoVE K12

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Using SNP Patterns to Link Disease Risk

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