CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY (DMD) IN FEMALES USING REAL TIME PCR

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HAYAT NOUSAEID M.; KARIMIPOUR MORTEZA; MARYAMI F.; EDALAT R.; NAJMABADI H.; ZEYNALI SIROUS

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Journal: Cell Journal (Yakhteh) Year:2007 | Volume:9 | Issue:1 (33) Page(s): 45-50

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Title

CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY (DMD) IN FEMALES USING REAL TIME PCR

Author(s)

Keywords

DMD/BMDQ2

QUANTITATIVE REAL-TIME PC\RQ2

CARRIER TESTINGQ1

Abstract

Introduction: Duchene/ Becker (DMD/BMD) muscular dystrophy is the most frequent neuromuscular disease in children which is inherited as an X-Linked recessive trait. The disease is caused by partial deletion in dystrophin gene. We developed a rapid and robust method for direct identification of female carriers of deletions and duplications in the dystrophin gene, in order to prevent the affected newborn males to be born.Materials and Methods: Qantitative real-time PCR assay for deletion/duplication within two major hot spots in dystrophin gene (exon 6 and 47) was developed and an X-linked gene was considered as a normalizer (i.e., a fragment of human coagulation factor IX gene).The quantitative Real-time PCR test was conducted using comparative threshold method (DDCT).Results: The results showed 2-DDCT of 1.09±0.21 for normal individuals and 0.51±0.1 for carrier samples. Carrier status was accurately attributed in 100% of cases.Conclusion: This method is simple, rapid, reliable and cost-effective. It may be applied for direct determination of deletion/duplication in potential DMD/BMD carriers and may easily be adapted for other genetic conditions involving deletions and duplications.

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APA: Copy

HAYAT NOUSAEID, M., KARIMIPOUR, MORTEZA, MARYAMI, F., EDALAT, R., NAJMABADI, H., & ZEYNALI, SIROUS. (2007). CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY (DMD) IN FEMALES USING REAL TIME PCR. CELL JOURNAL (YAKHTEH), 9(1 (33)), 45-50. SID. https://sid.ir/paper/16398/en

Vancouver: Copy

HAYAT NOUSAEID M., KARIMIPOUR MORTEZA, MARYAMI F., EDALAT R., NAJMABADI H., ZEYNALI SIROUS. CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY (DMD) IN FEMALES USING REAL TIME PCR. CELL JOURNAL (YAKHTEH)[Internet]. 2007;9(1 (33)):45-50. Available from: https://sid.ir/paper/16398/en

IEEE: Copy

M. HAYAT NOUSAEID, MORTEZA KARIMIPOUR, F. MARYAMI, R. EDALAT, H. NAJMABADI, and SIROUS ZEYNALI, “CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY (DMD) IN FEMALES USING REAL TIME PCR,” CELL JOURNAL (YAKHTEH), vol. 9, no. 1 (33), pp. 45–50, 2007, [Online]. Available: https://sid.ir/paper/16398/en

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