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

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JABARPOUR BONYADI MORTEZA; BARZEGAR M.; AYREMLO H.; KHANDAGI R.; ESMAILY M.

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Journal: MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES Year:2006 | Volume:28 | Issue:4 Page(s): 33-39

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Title

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

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Keywords

DUCHENNE MUSCULAR DYSTRPHYQ3

BECKER MUSCULAR DYSTROPHYQ3

DYSTROPHIN GENEQ3

MULTIPLEX-PCRQ3

Abstract

Background and Objectives: Duchenne muscular Dystrophy is a neuromuscular disorder with muscular atrophy. This disease is consequence of mutations in DYSTROPHIN GENE located on X chromosome and its inheritance pattern is recessive. The incidence of this disease is one out of 3500 alive male newborns. In two third of the cases the disease is due to new mutation. The reason for such a high Frequency of new mutation in the gene is suspected to be due to the size of the gene. This gene is consisted of 79 exons spanning 2400 kb. Among 70% of the patients the gene has large deletions or duplications. In the rest of the cases the gene has tolerated point mutations.Materials and Methods: DMD patients from East Azarbaijan diagnosed by neurologists were referred to the lab. DNA was extracted from the whole peripheral blood and was analyzed for 26 exons of DYSTROPHIN GENE by applying MULTIPLEX-PCR technique.Results: We found that 21 patients out of 46 referred patients (46%) had large deletions in one of the exons investigated. Three of these patients (14%) had deletions in one of proximal exons whereas the remaining (86%) had deletions in one of the distal exons (exons number 40 to 52). Fifteen out of 46 families (32.6%) had No affected person other than proband which this indicates that the disease was most likely due to new mutation.Conclusion: Forty six Percent of DMD patients from Eastern Azarbaijan had deletion in one of the exons and mainly distal exons of DYSTROPHIN GENE (exons 40 to 52) were involved in these patients.

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APA: Copy

JABARPOUR BONYADI, MORTEZA, BARZEGAR, M., AYREMLO, H., KHANDAGI, R., & ESMAILY, M.. (2006). SCREENING AND GENETIC DIAGNOSIS OF DUCHENNE-BECKER MUSCULAR DYSTROPHY IN EAST AZARIBAIJAN BY MULTIPLEX-PCR. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, 28(4), 33-39. SID. https://sid.ir/paper/47434/en

Vancouver: Copy

JABARPOUR BONYADI MORTEZA, BARZEGAR M., AYREMLO H., KHANDAGI R., ESMAILY M.. SCREENING AND GENETIC DIAGNOSIS OF DUCHENNE-BECKER MUSCULAR DYSTROPHY IN EAST AZARIBAIJAN BY MULTIPLEX-PCR. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2006;28(4):33-39. Available from: https://sid.ir/paper/47434/en

IEEE: Copy

MORTEZA JABARPOUR BONYADI, M. BARZEGAR, H. AYREMLO, R. KHANDAGI, and M. ESMAILY, “SCREENING AND GENETIC DIAGNOSIS OF DUCHENNE-BECKER MUSCULAR DYSTROPHY IN EAST AZARIBAIJAN BY MULTIPLEX-PCR,” MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, vol. 28, no. 4, pp. 33–39, 2006, [Online]. Available: https://sid.ir/paper/47434/en

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