ANALYSIS OF INTRON 1 INVERSION AT F8 GENE IN SEVERE HEMOPHILIA A PATIENTS BY INVERSE SHIFTING-PCR REFERRED FROM ISFAHAN SEYEDOLSHOHADA HOSPITAL

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ROOZAFZAY N.; KOKABEE L.; ZEINALI S.; KARIMIPOOR M.

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Journal: JOURNAL OF ARDABIL UNIVERSITY OF MEDICAL SCIENCES (JAUMS) Year:2013 | Volume:13 | Issue:1 (47) Page(s): 93-101

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Title

ANALYSIS OF INTRON 1 INVERSION AT F8 GENE IN SEVERE HEMOPHILIA A PATIENTS BY INVERSE SHIFTING-PCR REFERRED FROM ISFAHAN SEYEDOLSHOHADA HOSPITAL

Author(s)

ROOZAFZAY N. | KOKABEE L. | ZEINALI S. | KARIMIPOOR M. | Issue Writer Certificate

Keywords

HEMOPHILIA AQ2

INTRON 1Q2

INVERSE SHIFTING-PCRQ2

INVERSIONQ2

Abstract

Background & Objectives: HEMOPHILIA A is an X-linked recessive bleeding disorder, which is caused by several different abnormalities in Factor 8 gene. Intron 22 INVERSION is the main causative mutation in 45-50% of severe HEMOPHILIA A patients. Moreover INTRON 1 INVERSION is responsible for>5% of severe HEMOPHILIA A cases. The goal of this study was to precisely analyse INTRON 1 INVERSION of Factor 8 gene in severe HEMOPHILIA A patients who were negative for intron 22 INVERSION by INVERSE SHIFTING-PCR (IS-PCR) method.Methods: In this experimental study, severe HEMOPHILIA A patients with less than 1% of normal FVIII activity level referred from Isfahan Seyedolshohada hospital were analyzed.After obtaining the consent from patients, genomic DNA from peripheral blood leukocytes was extracted. Then, Inverse-Shifting PCR method was exploited for detection of INVERSION of INTRON 1 of Factor 8 gene in patients who were negative for INVERSION intron 22.Results: In 18 out of 32 patients who were negative for INVERSION intron 22, 2 (6.2%) had INTRON 1 INVERSION.Conclusion: The allele frequency of INVERSION of INTRON 1 at Factor 8 gene is in agreement with related studies. IS-PCR is a rapid, robust and cost effective method that can improve the molecular detection of INVERSION and is useful for analysis of HEMOPHILIA A patients, carrier testing and prenatal diagnosis.

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APA: Copy

ROOZAFZAY, N., KOKABEE, L., ZEINALI, S., & KARIMIPOOR, M.. (2013). ANALYSIS OF INTRON 1 INVERSION AT F8 GENE IN SEVERE HEMOPHILIA A PATIENTS BY INVERSE SHIFTING-PCR REFERRED FROM ISFAHAN SEYEDOLSHOHADA HOSPITAL. JOURNAL OF ARDABIL UNIVERSITY OF MEDICAL SCIENCES (JAUMS), 13(1 (47)), 93-101. SID. https://sid.ir/paper/391478/en

Vancouver: Copy

ROOZAFZAY N., KOKABEE L., ZEINALI S., KARIMIPOOR M.. ANALYSIS OF INTRON 1 INVERSION AT F8 GENE IN SEVERE HEMOPHILIA A PATIENTS BY INVERSE SHIFTING-PCR REFERRED FROM ISFAHAN SEYEDOLSHOHADA HOSPITAL. JOURNAL OF ARDABIL UNIVERSITY OF MEDICAL SCIENCES (JAUMS)[Internet]. 2013;13(1 (47)):93-101. Available from: https://sid.ir/paper/391478/en

IEEE: Copy

N. ROOZAFZAY, L. KOKABEE, S. ZEINALI, and M. KARIMIPOOR, “ANALYSIS OF INTRON 1 INVERSION AT F8 GENE IN SEVERE HEMOPHILIA A PATIENTS BY INVERSE SHIFTING-PCR REFERRED FROM ISFAHAN SEYEDOLSHOHADA HOSPITAL,” JOURNAL OF ARDABIL UNIVERSITY OF MEDICAL SCIENCES (JAUMS), vol. 13, no. 1 (47), pp. 93–101, 2013, [Online]. Available: https://sid.ir/paper/391478/en

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