GENOTYPE-PHENOTYPE CORRELATION IN PATIENTS WITH SPINAL MUSCULAR ATROPHY IN EAST AZERBAIJAN

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OMRANI O.; JABARPOUR BONYADI MORTEZA; BARZEGAR MOHAMMAD

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Journal: Journal of Advances in Medical and Biomedical Research Year:2008 | Volume:16 | Issue:62 Page(s): 27-36

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Title

GENOTYPE-PHENOTYPE CORRELATION IN PATIENTS WITH SPINAL MUSCULAR ATROPHY IN EAST AZERBAIJAN

Author(s)

OMRANI O. | JABARPOUR BONYADI MORTEZA | BARZEGAR MOHAMMAD | Issue Writer Certificate

Keywords

SPINAL MUSCULAR ATROPHYQ3

SMN1 GENEQ3

NAIP GENEQ3

GENOTYPE-PHENOTYPE CORRELATIONQ3

Abstract

Background and Objectives: The neuromuscular degenerative disorder, known as SPINAL MUSCULAR ATROPHY (SMA), is a common fatal disease in neonates. In most patients with SMA, exon 7 and/or exon 8 of SMN1 GENE is deleted. It is reported that the deletion of exon 5 from NAIP GENE may be involved in the severity of SMA disease. The present study was aimed to evaluate the genotype- phenotype correlation of SMN1 and NAIP GENEs in SMA patients of East Azerbaijan. Materials and Methods: We analyzed SMN1 and NAIP GENEs in SMA patients referred from East Azerbaijan province using molecular methods. The genome of SMA patients, diagnosed by neurologists, was analyzed for exons 7 and 8 of SMN1 GENE and exon 5 of NAIP GENE using PCR-RFLP and Multiplex-PCR techniques, respectively. Results: Homozygous deletions of SMN1 were detected in 90% of SMA Patients. Exon 5 from the NAIP GENE was deleted in 54.5% of patients and its deletion was more frequent in SMA type I (75%) as compared to type II (18%) and type III (7%).Conclusion: The results further support that the analysis of the SMN1 GENE may be used for confirming clinical manifestations of SMA, while the analysis of NAIP GENE can be used to determine the severity of the disease.

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APA: Copy

OMRANI, O., JABARPOUR BONYADI, MORTEZA, & BARZEGAR, MOHAMMAD. (2008). GENOTYPE-PHENOTYPE CORRELATION IN PATIENTS WITH SPINAL MUSCULAR ATROPHY IN EAST AZERBAIJAN. JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH, 16(62), 27-36. SID. https://sid.ir/paper/61057/en

Vancouver: Copy

OMRANI O., JABARPOUR BONYADI MORTEZA, BARZEGAR MOHAMMAD. GENOTYPE-PHENOTYPE CORRELATION IN PATIENTS WITH SPINAL MUSCULAR ATROPHY IN EAST AZERBAIJAN. JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH[Internet]. 2008;16(62):27-36. Available from: https://sid.ir/paper/61057/en

IEEE: Copy

O. OMRANI, MORTEZA JABARPOUR BONYADI, and MOHAMMAD BARZEGAR, “GENOTYPE-PHENOTYPE CORRELATION IN PATIENTS WITH SPINAL MUSCULAR ATROPHY IN EAST AZERBAIJAN,” JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH, vol. 16, no. 62, pp. 27–36, 2008, [Online]. Available: https://sid.ir/paper/61057/en

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