DETECTION OF DUCHENNE MUSCULAR DYSTROPHY CARRIERS BY APPLYING MICROSATELLITE MARKERS

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ZEYNAL ZADEH NIGH N.; JABARPOUR BONYADI MORTEZA; BARZEGAR MOHAMMAD; NADAF NIA H.

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Journal: MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES Year:2008 | Volume:30 | Issue:1 Page(s): 57-64

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Information Journal Paper

Title

DETECTION OF DUCHENNE MUSCULAR DYSTROPHY CARRIERS BY APPLYING MICROSATELLITE MARKERS

Author(s)

ZEYNAL ZADEH NIGH N. | JABARPOUR BONYADI MORTEZA | BARZEGAR MOHAMMAD | NADAF NIA H. | Issue Writer Certificate

Keywords

DUCHENNE MUSCULAR DYSTROPHYQ3

CARRIER DETECTIONQ3

MICROSATELLITE REPEATSQ3

Abstract

Background and Objectives: DUCHENNE MUSCULAR DYSTROPHY is a neuromuscular disorder with progressive muscle wasting and weakness. This disease is consequence of mutations in dystrophin gene located on X chromosome and its inheritance pattern is X-linked recessive. The incidance of this disease is one out of 3500 alive male newborns. In the absence of efficient treatment, detection of female carriers for genetic counseling and prenatal diagnosis is essential.Materials and Methods: Sixteen DMD families were referred to the laboratory by neurologists. DNA was extracted from the whole peripheral blood and was analyzed by gene tracking technique. All members of the families were studied by using 7 microsatellites located in and around the dystrophin gene.Results: forty three females at risk of being DMD carriers and 3 obligate carriers were studied and 29 (68.18%) female relatives were diagnosed as carriers or non-carriers.Conclusion: In DMD families with deletion, gene tracking is a reliable technique for carrier-status identification with 95-100% likelihood.

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References

SCREENING AND GENETIC DIAGNOSIS OF DUCHENNE-BECKER MUSCULAR DYSTROPHY IN EAST AZARIBAIJAN BY MULTIPLEX-PCR

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APA: Copy

ZEYNAL ZADEH NIGH, N., JABARPOUR BONYADI, MORTEZA, BARZEGAR, MOHAMMAD, & NADAF NIA, H.. (2008). DETECTION OF DUCHENNE MUSCULAR DYSTROPHY CARRIERS BY APPLYING MICROSATELLITE MARKERS. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, 30(1), 57-64. SID. https://sid.ir/paper/46873/en

Vancouver: Copy

ZEYNAL ZADEH NIGH N., JABARPOUR BONYADI MORTEZA, BARZEGAR MOHAMMAD, NADAF NIA H.. DETECTION OF DUCHENNE MUSCULAR DYSTROPHY CARRIERS BY APPLYING MICROSATELLITE MARKERS. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2008;30(1):57-64. Available from: https://sid.ir/paper/46873/en

IEEE: Copy

N. ZEYNAL ZADEH NIGH, MORTEZA JABARPOUR BONYADI, MOHAMMAD BARZEGAR, and H. NADAF NIA, “DETECTION OF DUCHENNE MUSCULAR DYSTROPHY CARRIERS BY APPLYING MICROSATELLITE MARKERS,” MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, vol. 30, no. 1, pp. 57–64, 2008, [Online]. Available: https://sid.ir/paper/46873/en

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