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- Title
THE POSSIBLE ASSOCIATION OF SINGLE NUCLEOTIDE POLYMORPHISM (SNP) AT 153,104 OF RB1 GENE WITH LATERALITY AND STAGING OF RETINOBLASTOMA : A PRELIMINARY REPORT.
- Authors
A. R., Nur Shafawati; B. P., Hoh; A. Y., Hanani; A. T., Liza Sharmini; B. A., Zilfalil
- Abstract
PURPOSE : To determine the associate of A to G single nucleotide polymorphism (SNP) in exon 19 of Rb1 gene with laterality and staging of retinoblastoma. This SNP was found exclusively among Asians. METHODOLOGY : Seven (8 eyes) confirmed cases of retinoblastoma based on either clinically or histologically were included in this preliminary study. The intial clinical presentation, which include laterality and staging were obtained. The staging was based on Reese-Ellsworth and TNM classification. 5cc of venous blood were obtained. DNA was extracted using QIAamp DNA Blood Mini kit (Qiagen(r), USA). PCR amplification of the exon 19 of Rb1 gene was performed and the PCR amplicon was digested with Tsp5091 restriction enzyme for rapid genotyping of the Rb1 SNP and followed with gel electrophoresis. RESULT : 6 cases were unilateral; only one case of bilateral involvement was included in this preliminary report. There was no statistically significant association between laterality and A> G SNP at 153,104 of Rb1 gene (p=0.43). There was also no significant association between this exclusive SNP with both RE and TNM classification (p=0.58). CONCLUSION : There was no significant association between laterality and staging with SNP at nucleotide 153,104 of the Rb1 gene based on our preliminary report. Perhaps, larger sample size will provide us with more conclusive evidence of the possible association of this SNP with retinoblastoma.
- Subjects
NUCLEOTIDES; GENETIC polymorphisms; EXONS (Genetics); SPLIT genes; RETINOBLASTOMA
- Publication
Malaysian Journal of Medical Sciences, 2006, Vol 13, p112
- ISSN
1394-195X
- Publication type
Article