STUDY OF SMN1 GENE AMONG SMA TYPE I & II PATIENTS FROM EAST AZERBAIJAN

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JABARPOUR BONYADI MORTEZA; OMRANI O.; HOSSEINPOUR FEYZI M.A.; BARZEGAR M.; SAKHAEI N.; ARDABILI M.; NADDAF NEYA H.

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Journal: MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES Year:2006 | Volume:27 | Issue:4 Page(s): 23-28

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Title

STUDY OF SMN1 GENE AMONG SMA TYPE I & II PATIENTS FROM EAST AZERBAIJAN

Author(s)

Keywords

SPINAL MUSCULAR ATROPHY 1Q4

SPINAL MUSCULAR ATROPHY2Q4

SERVICAL OF MOTOR NERON 1Q3

PCR-RFLP TECHNIQUEQ3

Abstract

Background and Objectives: Spinal Muscular Atrophy (SMA) is one of the neurodegenerative disorders leading to weakness and atrophy of voluntary muscles. This disease forms the second most common fatal autosomal recessive disease after cystic fibrosis, with an incidence of 1 in 10000 newborns. In most of the patients of SMA, exon 7 and/or exon 8 of SMN 1 gene is deleted. In this study we analyzed both exons in SMA patients referred from East Aterbaijan region applying molecular methods.Materials and Methods: SMA patients diagnosed by neurologists were referred to the lab. DNA was extracted from the whole peripheral blood and was analyzed for exons 7 and 8 of SMN1 gene by applying PCR-RFLP TECHNIQUE.Results: Our study indicates that 43.3% (13/30) of SMA type I patients and 6.25% (1/16) of SMA type II patients had deletions in both exons 7 and 8 of SMNl gene. Among SMA type II patients, 6.25% had deletions in both exons. Deletion of exon 7 or exon 8 alone was observed in 6.25% of SMA patients affected by type II.Conclusion: Deletions of exon 7 and exon 8 of SMN 1 gene was observed in most of the SMA type I and type II patients.

Cites

CARRIER DETECTION FOR SPINAL MUSCULAR ATROPHY BY APPLICATION OF MICROSATELLITES IN AFFECTED FAMILIES FROM EAST AZERBAIJAN

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APA: Copy

JABARPOUR BONYADI, MORTEZA, OMRANI, O., HOSSEINPOUR FEYZI, M.A., BARZEGAR, M., SAKHAEI, N., ARDABILI, M., & NADDAF NEYA, H.. (2006). STUDY OF SMN1 GENE AMONG SMA TYPE I & II PATIENTS FROM EAST AZERBAIJAN. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, 27(4), 23-28. SID. https://sid.ir/paper/46636/en

Vancouver: Copy

JABARPOUR BONYADI MORTEZA, OMRANI O., HOSSEINPOUR FEYZI M.A., BARZEGAR M., SAKHAEI N., ARDABILI M., NADDAF NEYA H.. STUDY OF SMN1 GENE AMONG SMA TYPE I & II PATIENTS FROM EAST AZERBAIJAN. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2006;27(4):23-28. Available from: https://sid.ir/paper/46636/en

IEEE: Copy

MORTEZA JABARPOUR BONYADI, O. OMRANI, M.A. HOSSEINPOUR FEYZI, M. BARZEGAR, N. SAKHAEI, M. ARDABILI, and H. NADDAF NEYA, “STUDY OF SMN1 GENE AMONG SMA TYPE I & II PATIENTS FROM EAST AZERBAIJAN,” MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, vol. 27, no. 4, pp. 23–28, 2006, [Online]. Available: https://sid.ir/paper/46636/en

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