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Tumor Biology

, Volume 35, Issue 2, pp 1467–1472 | Cite as

CDKN2A exon-wise deletion status and novel somatic mutations in Indian glioma patients

  • M. K. Sibin
  • Dhananjaya I. Bhat
  • Ch Lavanya
  • M. Jeru Manoj
  • S. Aakershita
  • G. K. Chetan
Research Article

Abstract

Over the years, deletions of CDKN2A (p16) tumor suppressor gene has been studied using FISH and multiplex PCR, with major focus on exon 2 in various cancers, and the frequency of mutation is found to be varied in different studies. In this study, we analyzed the deletion status of all three exons of p16 and frequency of exon 2 somatic point mutations in glioma from the Indian population and its clinical implications. Multiplex PCR was carried out in order to check deletion of all 3 exons in 50 glioma samples. Nonconventional PCR-SSCP analysis and sequencing was done to identify mutations in 48 cases. Deletion of at least one of the three exons of p16 INK4A was observed in ten cases (20 %). The frequencies of exon-wise deletions were 10 % for exon 1, 4 % for exon 2, and 8 % for exon 3. Two out of 48 samples were positive for mutations in p16 exon 2. One sample had a transition of G to C on position 147 with a codon change TGG to TGC which does not contribute to the protein structure. Another sample had a transversion of A to G on the position 154 with a codon change ATG to GTG with change in amino acid methionine to valine in 52nd position. Deletion pattern was found to be varied in three exons. Frequency of p16 gene mutation was less in the Indian population (4.2 %), and this mutation does not contribute to any remarkable change in protein structure.

Keywords

Glioma CDKN2A p16 Exon 2 Mutations Deletion 

Notes

Acknowledgments

Mr. Sibin M. K. is a CSIR-Junior research fellow, thus financial support provided by CSIR, New Delhi is kindly acknowledged.

Conflict of interest

None

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Copyright information

© International Society of Oncology and BioMarkers (ISOBM) 2013

Authors and Affiliations

  • M. K. Sibin
    • 1
  • Dhananjaya I. Bhat
    • 2
  • Ch Lavanya
    • 1
  • M. Jeru Manoj
    • 1
  • S. Aakershita
    • 1
  • G. K. Chetan
    • 1
  1. 1.Department of Human GeneticsNational Institute of Mental Health and Neuro SciencesBangaloreIndia
  2. 2.Department of NeurosurgeryNational Institute of Mental Health and Neuro SciencesBangaloreIndia

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