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Register a new userExploring two mutations in the exon 28 of Von Willebrand genein two patients follow up the Halmshire hospital – university
اكتشاف طفرتين في الإكسون 28 ضمن مورثة فون فيلبراند لدى مريضين راجعا مشفى هلم شاير الجامعي
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Tishreen University ورقة بحثية
Publication date
2013
fields
Biology
and research's language is
العربية
Authors
محي الدين عيسى( باحث )
Created by
Shamra Editor
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اكتشفت طفرتان في الإكسون 28 من مورثة فون فيلبراند لدى رجل A و امرأة B مصابين بمرض فون فيلبراند. و قد أظهرت الاختبارات النوعية مثل مقايسة ارتباط VWF:FVIII و مقايسة ارتباط الكولاجن VWF:CB و تحليل بروتين العامل VWF أن مرض VWD هو من نمط 2A في المورثة. كما كشف تحري الإكسون 28 بواسطة تقنية PCR و سلسلة أسس الدنا DNA عن وجود الطفرة A1 (C>T) في المريض A و الطفرة B1 (G>A) في المريضة B و هي طفرات مسؤولة عن ظهور المرض VWD مما يؤكد على أن مورثات التخثر الطبيعية هي مورثات منظمة و مبرمجة ذاتياً.
Two mutations of exon 28 in the Von Willbrand gene have discovered intwopatients (female and male).Specific tests such as the VWF: FVIIIbinding assay, collagen binding assay VWF:CB and VWF proteinanalysis give that VWD is a type of 2A at the gene. Investigating exon 28 by PCR technique and DNA sequencingrevealed mutation A1(C>T) in patientA and a mutationB1(G>A) inpatientB. These mutations are responsible for the presence of VWD. Assuring that natural genes involved in coagulation are well organised and automated.
Artificial intelligence review:
Research summary
تتناول هذه الدراسة اكتشاف طفرتين في الإكسون 28 من مورثة فون فيلبراند لدى مريضين (رجل وامرأة) يعانيان من مرض فون فيلبراند. تم استخدام تقنيات مختلفة مثل مقابسة ارتباط WF:FVIII، وقايسة ارتباط الكولاجن VWF:CB، وتحليل بروتين العامل WWF لتحديد نوع المرض. أظهرت النتائج أن المرض من النوع 2A. باستخدام تقنية PCR وتسلسل الدنا، تم اكتشاف الطفرة A1 (C>T) في المريض A والطفرة B1 (G>A) في المريضة B. هذه الطفرات مسؤولة عن ظهور المرض وتؤكد على أن مورثات التخثر الطبيعية هي مورثات منظمة ومبرمجة ذاتياً. الدراسة تبرز أهمية الفحص الجزيئي لتحديد الطفرات الوراثية المسؤولة عن الأمراض الوراثية مثل مرض فون فيلبراند.
Critical review
تعتبر هذه الدراسة خطوة مهمة في مجال البحث الجيني لمرض فون فيلبراند، حيث تقدم معلومات قيمة حول الطفرات الوراثية المسؤولة عن المرض. ومع ذلك، يمكن تحسين الدراسة من خلال زيادة حجم العينة لتشمل عدد أكبر من المرضى، مما يعزز من قوة النتائج ويجعلها أكثر تمثيلاً للسكان. كما أن الدراسة لم تتطرق بشكل كافٍ إلى العوامل البيئية التي قد تؤثر على التعبير الجيني للمرض. بالإضافة إلى ذلك، يمكن أن تكون هناك حاجة لمزيد من الدراسات لتحديد تأثير هذه الطفرات على المستوى البروتيني والوظيفي بشكل أكثر تفصيلاً.
Questions related to the research
-
ما هي الطفرات التي تم اكتشافها في هذه الدراسة؟
تم اكتشاف الطفرة A1 (C>T) في المريض A والطفرة B1 (G>A) في المريضة B.
-
ما هي التقنيات المستخدمة لتحديد الطفرات في هذه الدراسة؟
تم استخدام تقنيات مثل مقابسة ارتباط WF:FVIII، وقايسة ارتباط الكولاجن VWF:CB، وتحليل بروتين العامل WWF، وتقنية PCR، وتسلسل الدنا.
-
ما هو نوع مرض فون فيلبراند الذي تم تحديده في هذه الدراسة؟
تم تحديد أن المرض من النوع 2A.
-
ما هي أهمية هذه الدراسة في مجال البحث الجيني؟
تقدم هذه الدراسة معلومات قيمة حول الطفرات الوراثية المسؤولة عن مرض فون فيلبراند وتؤكد على أهمية الفحص الجزيئي لتحديد الطفرات الوراثية المسؤولة عن الأمراض الوراثية.
References used
Von Willebrand EA:(1962). Hereditar Pseudohermofili Finska Lakaresdlikaptes:Handingar, 672:7-112
Sadler JE (1998). Biochemist ry and Genet ics of V.W.F. Annul review of Biochemistry 67:395- 424
Titani, K,YoshtakeS, Schach, BG, Foster, DC (1986). Amino acids sequence of human V.W.F.Biochemist ry, 25: 3171-3184
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