MOLECULAR ANALYSIS OF VON WILLEBRAND GENE IN VON WILLEBRAND DISEASE TYPE 1 USING CONFORMATION SENSITIVE GEL ELECTROPHORESIS: COMPARISON OF FLUORESCENT AND MANUAL METHOD

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HASHEMI SOUTEH S.M.B.; GODIU A.

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Journal Paper

Paper Information

Journal: JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES Year:2006 | Volume:16 | Issue:52 Page(s): 1-10

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Title

MOLECULAR ANALYSIS OF VON WILLEBRAND GENE IN VON WILLEBRAND DISEASE TYPE 1 USING CONFORMATION SENSITIVE GEL ELECTROPHORESIS: COMPARISON OF FLUORESCENT AND MANUAL METHOD

Author(s)

HASHEMI SOUTEH S.M.B. | GODIU A. | Issue Writer Certificate

Keywords

VON WILLEBRAND DISEASEQ3

GENETICSQ3

MOLECULAR ANALYSISQ3

MUTATIONSQ3

CSGEQ3

Abstract

Background and purpose: VON WILLEBRAND DISEASE (VWD) type 1, is the most common inherited bleeding disorder caused by defect in Von Willebrand Factor (VWF) gene with 178000 nucleotide length. Different methods are available to detect unknown MUTATIONS in a genetic study. The fluorescent conformation sensitive gel electrophoresis (F-CSGE) was designed for the VWF gene by using fluorescent dyes in this study and two methods of CSGE (manual and fluorescent) were compared to detect VWF gene MUTATIONS.Materials and methods: The VWF gene in 7 index cases with type 1 VWD and one normal control were amplified using 52 exons, exon-intron boundaries and 3' region of the gene using 56 different PCR. The PCR fragments were analyzed using both manual and fluorescent CSGE and the fragments with bandshifts were sequenced.Results: In total, there were 125 PCR fragments with bandshift using F-CSGE and 101 fragments with bandshift using M-CSGE. Five different MUTATIONS were identified using both techniques including three new MUTATIONS, glycine 19 to argenine (G19R) in exon 2, Argenine 1315 to histidine (R1315H) in exon 28, cystin 2304 to lysine (C2304Y) in exon 40 and two known MUTATIONS,prolin 1266 to Lysine (P1266L) and Serine 1285 to Prolin (S1285P) in exon 28. In addition, 45 different polymorphisms were detected using F-CSGE and 39 were detected using M-CSGE. 192 different PCR fragments were analyzed in each run using F-CSGE and maximum 40 samples were analyzed using M-CSGE.Conclusion: Although F-CSGE is more time consuming and more expensive than M-CSGE, but it is a rapid, more sensitive and high-throughput method to identify unknown MUTATIONS in VWF gene compared with M-CSGE.

Cites

بررسی فنوتیپی و آنالیز مولکولی بیماران مبتلا به فون ویلیبرانت تیپ یک

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APA: Copy

HASHEMI SOUTEH, S.M.B., & GODIU, A.. (2006). MOLECULAR ANALYSIS OF VON WILLEBRAND GENE IN VON WILLEBRAND DISEASE TYPE 1 USING CONFORMATION SENSITIVE GEL ELECTROPHORESIS: COMPARISON OF FLUORESCENT AND MANUAL METHOD. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, 16(52), 1-10. SID. https://sid.ir/paper/46018/en

Vancouver: Copy

HASHEMI SOUTEH S.M.B., GODIU A.. MOLECULAR ANALYSIS OF VON WILLEBRAND GENE IN VON WILLEBRAND DISEASE TYPE 1 USING CONFORMATION SENSITIVE GEL ELECTROPHORESIS: COMPARISON OF FLUORESCENT AND MANUAL METHOD. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2006;16(52):1-10. Available from: https://sid.ir/paper/46018/en

IEEE: Copy

S.M.B. HASHEMI SOUTEH, and A. GODIU, “MOLECULAR ANALYSIS OF VON WILLEBRAND GENE IN VON WILLEBRAND DISEASE TYPE 1 USING CONFORMATION SENSITIVE GEL ELECTROPHORESIS: COMPARISON OF FLUORESCENT AND MANUAL METHOD,” JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, vol. 16, no. 52, pp. 1–10, 2006, [Online]. Available: https://sid.ir/paper/46018/en

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