Paper Information

Journal:   SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES JOURNAL   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
 
References: 
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