P53 gene mutation spectrum and the relationship between gene mutation and protein levels in pterygium

Yi Yu Tsai, Ya Wen Cheng, Huei Lee, Fuu Jen Tsai, Sung Huei Tseng, Kong Chao Chang

Research output: Contribution to journalArticle

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Abstract

Purpose: To investigate the spectrum of p53 gene mutations and the relationship between gene mutation and p53 protein levels in pterygium. Methods: Pterygial samples were harvested from 51 patients undergoing pterygium surgery. DNA samples for p53 mutation analyses were extracted from epithelial cells and subjected to DNA sequencing for examination of mutations in exons 4, 5, 6, 7, and 8 of the p53 gene. In situ levels of p53 protein were studied by immunohistochemistry (IHC) and the percentage of positively stained cells quantified. Ten normal conjunctiva samples were included in this study as controls. Results: Mutations within the p53 gene were detected in 8 pterygial samples (15.7%) with only one mutation found in each sample. All the mutations observed were point mutations, with 6 being substitutions and 2 deletions. Three mutations were identified in exon 6, two in exon 7, and a single mutation found in each of exons 4, 5, and 8. P53 protein levels were scored as 0 (negative) in 31 pterygial specimens (60.8%), +1 in 9 samples (17.6%), +2 in 5 samples (9.8%), and +3 in 6 samples (11.8%) by IHC. The 8 samples found to have p53 gene mutations were equally distributed among the different levels of p53 protein observed using IHC, with 2 samples in each group. The two deletion mutations, which caused a frame shift to occur, were found in samples negative for p53 immunostaining (score 0), while substitution mutations were found in samples positively stained (score +1, +2, and +3). Conclusions: Mutations within p53 gene exons 4-8 were detected in pterygial epithelium and the mutations showed no correlation with p53 protein levels as seen by IHC.

Original languageEnglish
Pages (from-to)50-55
Number of pages6
JournalMolecular Vision
Volume11
Publication statusPublished - Jan 18 2005
Externally publishedYes

Fingerprint

Pterygium
p53 Genes
Mutation
Proteins
Exons
Immunohistochemistry
Sequence Deletion
Conjunctiva
DNA Sequence Analysis
Point Mutation

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Tsai, Y. Y., Cheng, Y. W., Lee, H., Tsai, F. J., Tseng, S. H., & Chang, K. C. (2005). P53 gene mutation spectrum and the relationship between gene mutation and protein levels in pterygium. Molecular Vision, 11, 50-55.

P53 gene mutation spectrum and the relationship between gene mutation and protein levels in pterygium. / Tsai, Yi Yu; Cheng, Ya Wen; Lee, Huei; Tsai, Fuu Jen; Tseng, Sung Huei; Chang, Kong Chao.

In: Molecular Vision, Vol. 11, 18.01.2005, p. 50-55.

Research output: Contribution to journalArticle

Tsai, YY, Cheng, YW, Lee, H, Tsai, FJ, Tseng, SH & Chang, KC 2005, 'P53 gene mutation spectrum and the relationship between gene mutation and protein levels in pterygium', Molecular Vision, vol. 11, pp. 50-55.
Tsai YY, Cheng YW, Lee H, Tsai FJ, Tseng SH, Chang KC. P53 gene mutation spectrum and the relationship between gene mutation and protein levels in pterygium. Molecular Vision. 2005 Jan 18;11:50-55.
Tsai, Yi Yu ; Cheng, Ya Wen ; Lee, Huei ; Tsai, Fuu Jen ; Tseng, Sung Huei ; Chang, Kong Chao. / P53 gene mutation spectrum and the relationship between gene mutation and protein levels in pterygium. In: Molecular Vision. 2005 ; Vol. 11. pp. 50-55.
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abstract = "Purpose: To investigate the spectrum of p53 gene mutations and the relationship between gene mutation and p53 protein levels in pterygium. Methods: Pterygial samples were harvested from 51 patients undergoing pterygium surgery. DNA samples for p53 mutation analyses were extracted from epithelial cells and subjected to DNA sequencing for examination of mutations in exons 4, 5, 6, 7, and 8 of the p53 gene. In situ levels of p53 protein were studied by immunohistochemistry (IHC) and the percentage of positively stained cells quantified. Ten normal conjunctiva samples were included in this study as controls. Results: Mutations within the p53 gene were detected in 8 pterygial samples (15.7{\%}) with only one mutation found in each sample. All the mutations observed were point mutations, with 6 being substitutions and 2 deletions. Three mutations were identified in exon 6, two in exon 7, and a single mutation found in each of exons 4, 5, and 8. P53 protein levels were scored as 0 (negative) in 31 pterygial specimens (60.8{\%}), +1 in 9 samples (17.6{\%}), +2 in 5 samples (9.8{\%}), and +3 in 6 samples (11.8{\%}) by IHC. The 8 samples found to have p53 gene mutations were equally distributed among the different levels of p53 protein observed using IHC, with 2 samples in each group. The two deletion mutations, which caused a frame shift to occur, were found in samples negative for p53 immunostaining (score 0), while substitution mutations were found in samples positively stained (score +1, +2, and +3). Conclusions: Mutations within p53 gene exons 4-8 were detected in pterygial epithelium and the mutations showed no correlation with p53 protein levels as seen by IHC.",
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