דף הבית / Glossary / סניפ (Single Nucletide Polymorphism- SNP)

סניפ (Single Nucletide Polymorphism- SNP)

פולימורפיזים הוא מצב שאללים רבים של אותו גן בתוך אוכלוסייה, מבוטאים בפנוטיפים שונים. לדוגמה, צבע העור האנושי הוא פולימורף.

סניפי [SNP] הינו וריאציה של רצך הדנא המתרחשת כאשר חומצת גרעין אחת בגנום נבדלת בין פרטים בכרומוזומים זהים בבני האגם. סניפים יכולים להתרחש באזורים מקודדים בגנום, באזורים לא מקודדים, ובאזורים בין גנים. סניפים ברצפים מקודדים לא בהכרח ישנו את רצף חומצת האמינו בחלבון שנוצר מכיוון שקיימים מספר רצפים שיוצרים את אותה חומצת האמינו.
לסניפים בדרך כלל יש שני אללים ולכן אפשר לעשות עליהם בדיקות מעבדה בקלות. סניפ אחד יכול לגרום למחלה שמועברת בתורשה מנדלית. עבור מחלות מורכבות בדר"כ המחלה נובעת כתוצאה מצירוף בין כמה סניפים, למשל כמואוסטיאופורוזיס.

הסניפים, שינויים ברצפי DNA באדם , יכולים להשפיע על האופן של האדם לפתח מחלות ולהגיב לפתוגנים, כימיקלים, תרופות, חיסונים וסיכונים אחרים. בנוסף, לסניפים חשיבות ברפואה המותאמת אישית. עם זאת, חשיבותם העיקרית במחקר הביו-רפואי היא לצורך השוואת אזורים גנומיים בין קבוצות (למשל בין חולים ובריאים) ושימוש בנתונים אלו עבור Genome-wide association study. מחקר הסניפים בעל חשיבות גם בתחום היבול ובגידול בעלי חיים.

הסניפים משמשים ברפואה כמרקרים במיפוי גנטי. הידע על הסניפים עוזר בהבנת פרמקוקינטיקה (השפעת הגוף על התרופות) ופרמוקודינמיקה (השפעת התרופות על הגוף). מגוון רחב של מחלות בבני אדם, כגון סרטן, מחלות זיהומיות (איידס, צרעת,צהבת וכדומה), אנמיה אוטואימונית, אנמיה חרמשית, תלסמיה β וסיסטיק פיברוזיס עלולות להיגרם כתוצאה מסניפים. בנוסף, סניפים יכולים להשפיע על מטבוליזם של תרופות שונות.

יתרונות יחודיים לבירור בגסטרומד

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סניפ (Single Nucletide Polymorphism- SNP)

יתרונות יחודיים לבירור בגסטרומד

גסטרומד

מדי בריאות

מדי בריאות

אודות ועוד

בירור רפואי

מרפאות ומכונים

שמור קשר

אודות ועוד

בירור רפואי

מרפאות ומכונים

שמור קשר