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

לפעמים, SNPs בתוך בלוק haplotype יכול לסייע במציאת גן אחראי למחלות מסוימות - כמו המופיליה. כדי לאתר גנים כאלה, חוקרים יכולים לערוך מחקרי אוכלוסייה.
לדוגמה, מחקרי אסוציאציה כלל-גנומיים, או GWAS, מתבצעים כדי לקשר שינויים גנטיים ספציפיים עם מחלה.
בגישה זו, החוקרים משתמשים בשתי קבוצות מחקר גדולות: אנשים עם המחלה המעניינת וקבוצה דומה של אנשים ללא המחלה.
דגימות DNA מכל משתתף במחקר מבודדות ורוצפות לפני סריקת הגנום לאיתור SNPs.
אם SNPs מסוימים מופיעים בתדירות גבוהה יותר אצל אנשים עם המחלה בהשוואה לאנשים בריאים, אז SNPs אלה אמורים להיות קשורים למחלה.
אמנם ייתכן כי SNPs אלה גורמים למצב, סביר יותר כי הם חלק בלוק haplotype שעשוי להכיל את הגרסה הסיבתית.

<ol>
	<li>מקאליסטר, קייט, סטיבן אייר וגיזלה אורוזקו. "גנטיקה של דלקת מפרקים שגרונית: GWAS ומעבר." ראומטולוגיה בגישה פתוחה: מחקר וסקירות 3 (2011): 31.</li>
	<li>בוש, ויליאם ס. וג'ייסון ה. מור. "מחקרי אסוציאציה רחבת גנום". PLoS Comput Biol 8, no. 12 (2012): e1002822.</li>
</ol>

מחקרי אסוציאציה כלל גנומיים gwas

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מחקרי אסוציאציה כלל גנומיים או GWAS משמשים כדי לזהות אם SNPs נפוצים קשורים למחלות מסוימות. נניח SNPs ספציפיים נצפים לעתים קרובות יותר אצל אנשים עם מחלה מסוימת מאשר אלה ללא המחלה. SNPs אלה אמורים להיות קשורים למחלה. מבחן כי בריבוע מבוצע כדי לבדוק את ההסתברות שהאלל עשוי להיות קשור למחלה.

GWAS אינו דורש זיהוי של גן המטרה המעורב בפנוטיפ המחלה. הוא מזהה את ה-SNP הקשור למחלה ומסייע לזהות את האנשים בסיכון. שיטה זו מפשטת את זיהוי גן היעד, אשר שורף זמן ובמקרים רבים אינו מדויק. נעשה שימוש ב-GWAS לזיהוי SNPs הקשורים לסיכון מוגבר לאוטם שריר הלב. GWAS זיהה גם SNPs הקשורים לסוכרת מסוג 2, מחלת פרקינסון, הפרעה לב אחרות, השמנת יתר, מחלת קרוהן וסרטן הערמונית.
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מחקרי אסוציאציה כלל גנומיים GWAS

מחקרי אסוציאציה כלל-גנומית או GWAS משמשים כדי לזהות אם SNPs נפוצים קשורים למחלות מסוימות. נניח SNPs ספציפיים הם יותר ...

Education

JoVE Core

Molecular Biology

ביולוגיה מולקולרית

Unit 2

יחידה 2

Analyzing Gene Expression and Function

ניתוח ביטוי ותפקוד של גנים

KEY TERMS AND CONCEPTS

מונחים ומושגים מרכזיים

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

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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...

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single nucleotide polymorphisms-snps

SNPs as Genetic Markers and Variants

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crispr

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experimental rnai

RNAi for Gene Silencing and Discovery

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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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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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