| Title:
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Sequencing of exon 10 and a of intron 9(composed of 500 nucleotide hot- spot region) of the complement factor H (CFH) gene to select susceptible single nucleotide polymorphysms for age related
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| Author(s):
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Zahra-Soheila Soheili, Hamid Ahmadieh, Shahram Samiee, Narsis Daftarian, Samira Kheitan, Abouzar Bagheri
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| Presentation Type:
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Poster
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| Subject:
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Molecular Biology and Genetics
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| Others:
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Presenting Author:
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| Name:
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Zahra Soheila Soheili
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| Affiliation :(optional)
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National Institute of Genetic Engineering and Biotechnology
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| E mail:
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soheili@nigeb.ac.ir
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| Phone:
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0098-21-44787379
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Mobile: |
09122990724
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Abstract (Max 200 words)
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| Purpose:
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Age related macular degeneration is one of the leading cause of blindness in elderly population. Genome wide screening among 116204 polymorphisms genotyped a common variant in the complement factor H which is strongly associated with AMD, Y402H. Several studies indicated individual homozygotes for the risk allele, the likelihood of AMD is increased by a factor of 7.4.
The aim of this study was to investigate hot point regions in exon 10 and a part of intron 9 in vicinity of exon 10.
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| Methods:
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Cases (166) and controls (69) were recruited by retinal specialist, ophthalmic research center, Shahid Beheshti university of medical sciences.
According to our previous experiences a viral polymorphisms analysis software was found to be the fit software for data analyzing named CEQ software for analysis of putative polymorphisms. One of the most interesting features of CEQ is multiple alignment of forward and reverse sequencing data with the reference sequence. Moreover, it can find well-known mutations and reports the known/unknown mutations in both nucleotide and amino-acids outputs.
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| Results:
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We found 3 hot point regions and 3 polymorphisms in case samples as follows; V30I (Val-Ile), T87J/K (Tyr-Ile/Lys) and R320Q (Arg-Gln).
Final report of CEQ sequence analysis was presented in FASTA format and subsequently we performed ClustalW2 software for pairwise alignment with Refseq. Data showed the location of variations in the interested sequence.
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| Conclusion:
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Applying SPSS software statistical differences and meaningful variations between the cases and controls were calculated by using Macnemar test for R320Q and V30I variants. However, we used Phi and Cramer tests for T87K polymorphism. Finally, we found out that there exist meaningful differences for R230Q and V30I between cases and controls.
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| Attachment:
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