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Paper Information
Journal:   JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES   OCTOBER-NOVAMBER 2012 , Volume 14 , Number 4; Page(s) 88 To 95.
 
Paper: 

Report Of A Novel Mutation In Rb1 Gene From An Iranian Retinoblastoma Patient And Its Effect On Splicing Pattern Of Mrna
 
 
Author(s):  Ahani A., Khoramkhorshid H.R., Behnam B., Akbari M.T.*
 
* MEDICAL GENTICS DEPT., MEDICAL FACULTY, TARBIAT MODARES UNIVERSITY, JALAL ALEAHMAD HIGHWAY, TEHRAN, I.R. IRAN
 
Abstract: 
Background and aims: Mutations in RB1 gene may lead to retinoblastoma which is the most common solid intraocular tumor in under-six year old children. To date, a wide spectrum of the mutations has been reported in the splicing ofRB1 which either affect splicing sequences or splicing regulatory elements. This report introduces a new mutation inRB1 and its influence on the splicing of mRNA.Case report: In the present survey, mutation analysis was done in an Iranian patient with sporadic unilateral retinoblastoma using direct sequencing and MLPA. Also, RB1 gene splicing pattern was analyzed by RT-PCR method. As a result, a same-sense nucleotide change (g.70 320C>T) was found near the 5' end of exon 12. This alteration disrupts the consensus sequence of an exonic splicing enhancer and changes the binding site of SC-35 protein. Structural analysis of cDNA in this patient showed the disruption of normal splicing pattern and the skipping of exon 12 from theRB1 transcript.Conclusion: Based on these findings, it may be reasonable to conclude that the above nucleotide change could be a pathogenic mutation. Also, for the first time we report an evidence for the presence of an exonic splicing enhancer in the exon 12 of theRB1 gene.
 
Keyword(s): RETINOBLASTOMA, RB1 GEN, MUTATION, SPLICING
 
 
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APA: Copy

AHANI, A., & KHORAMKHORSHID, H., & BEHNAM, B., & AKBARI, M. (2012). REPORT OF A NOVEL MUTATION IN RB1 GENE FROM AN IRANIAN RETINOBLASTOMA PATIENT AND ITS EFFECT ON SPLICING PATTERN OF MRNA. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, 14(4), 88-95. https://www.sid.ir/en/journal/ViewPaper.aspx?id=270872



Vancouver: Copy

AHANI A., KHORAMKHORSHID H.R., BEHNAM B., AKBARI M.T.. REPORT OF A NOVEL MUTATION IN RB1 GENE FROM AN IRANIAN RETINOBLASTOMA PATIENT AND ITS EFFECT ON SPLICING PATTERN OF MRNA. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES. 2012 [cited 2022January25];14(4):88-95. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=270872



IEEE: Copy

AHANI, A., KHORAMKHORSHID, H., BEHNAM, B., AKBARI, M., 2012. REPORT OF A NOVEL MUTATION IN RB1 GENE FROM AN IRANIAN RETINOBLASTOMA PATIENT AND ITS EFFECT ON SPLICING PATTERN OF MRNA. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, [online] 14(4), pp.88-95. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=270872.
 
 
Persian Abstract Yearly Visit 43
 
 
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