MOLECULAR DIAGNOSIS OF DUCHENNE/BECKER MUSCULAR DYSTROPHY: ANALYSIS OF EXONS DELETION AND CARRIER DETECTION

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AKBARI M.T.; ZARE KARIZI SH.; NAFISI SH.; ZAMANI GHOLAM REZA

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Journal: Cell Journal (Yakhteh) Year:2010 | Volume:12 | Issue:3 (47) Page(s): 421-428

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Title

MOLECULAR DIAGNOSIS OF DUCHENNE/BECKER MUSCULAR DYSTROPHY: ANALYSIS OF EXONS DELETION AND CARRIER DETECTION

Author(s)

AKBARI M.T. | ZARE KARIZI SH. | NAFISI SH. | ZAMANI GHOLAM REZA | Issue Writer Certificate

Keywords

DYSTROPHINQ1

MULTIPLEX PCRQ1

DUCHENE MUSCULAR DYSTROPHYQ1

BECKER MUSCULAR DYSTROPHYQ1

Abstract

Objective: Duchenne and BECKER MUSCULAR DYSTROPHY (DMD and BMD) are X-linked conditions resulting from a defect in the DYSTROPHIN gene located at Xp21.2. DMD is the most frequent neuromuscular disease in humans (1/3500 male newborns). In approximately 65% of DMD and BMD patients, deletions in the DYSTROPHIN gene have been identified as the molecular determinant. The frequency and distribution of DYSTROPHIN gene deletions in DMD/BMD patients from different populations are different. The aim of this study was to delineate various types of deleted exons and their frequency in affected male patients and identification of carrier females by linkage analysis.Materials and Methods: In this study 100 unrelated patients with DMD/BMD were studied for intragenic deletions in 28 exons and the promoter region of the DYSTROPHIN gene using MULTIPLEX PCR. We also performed linkage analysis within the DYSTROPHIN gene utilizing 8 short tandem repeat markers. Results: Fifty-two (52%) patients showed intragenic deletions. A total of 81% of the deletions were located at the distal hot spot region (44-55 exons) and 19% of the deletions were located at the proximal region (exon 2-19). The most frequent deleted exons were 47(16%), 48 and 46 (11%). Most of the STR markers showed heterozygosity in the families studied. The linkage analysis was useful for detecting carrier status.Conclusion: The present study suggests that intragenic DYSTROPHIN gene deletions occur with the same frequency in Iranian patients compared with other ethnic groups.

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APA: Copy

AKBARI, M.T., ZARE KARIZI, SH., NAFISI, SH., & ZAMANI, GHOLAM REZA. (2010). MOLECULAR DIAGNOSIS OF DUCHENNE/BECKER MUSCULAR DYSTROPHY: ANALYSIS OF EXONS DELETION AND CARRIER DETECTION. CELL JOURNAL (YAKHTEH), 12(3 (47)), 421-428. SID. https://sid.ir/paper/16303/en

Vancouver: Copy

AKBARI M.T., ZARE KARIZI SH., NAFISI SH., ZAMANI GHOLAM REZA. MOLECULAR DIAGNOSIS OF DUCHENNE/BECKER MUSCULAR DYSTROPHY: ANALYSIS OF EXONS DELETION AND CARRIER DETECTION. CELL JOURNAL (YAKHTEH)[Internet]. 2010;12(3 (47)):421-428. Available from: https://sid.ir/paper/16303/en

IEEE: Copy

M.T. AKBARI, SH. ZARE KARIZI, SH. NAFISI, and GHOLAM REZA ZAMANI, “MOLECULAR DIAGNOSIS OF DUCHENNE/BECKER MUSCULAR DYSTROPHY: ANALYSIS OF EXONS DELETION AND CARRIER DETECTION,” CELL JOURNAL (YAKHTEH), vol. 12, no. 3 (47), pp. 421–428, 2010, [Online]. Available: https://sid.ir/paper/16303/en

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