alexa Stop Codons of <em>TGF andbeta;RI</em> Gene Modulate the Functional Activity of 3D Structure and their Genetic Susceptibility in the Case of Wilms' Tumour| Abstract
ISSN: 1948-5956

Journal of Cancer Science & Therapy
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  • Research Article   
  • J Cancer Sci Ther/Vol.11.8 251(2019),

Stop Codons of TGF βRI Gene Modulate the Functional Activity of 3D Structure and their Genetic Susceptibility in the Case of Wilms' Tumour

Ajit Kumar Saxena1*, Veena Singh2, Aprajita1, Aniket Kumar1, Meenakshi Tiwari1, Pritanjali Singh3, Chandan K Singh1 and Ramanuj K1
1Human Cytogenetic and Molecular Genetic Laboratory, Department of Pathology/Lab Medicine, All India Institute of Medical Sciences, Phulwarisharif, Patna-801507, Bihar, India
2Department of Burns and Plastic Surgery, All India Institute of Medical Sciences, Phulwarisharif, Patna-801507, Bihar, India
3Department of Radiotherapy, All India Institute of Medical Sciences, Phulwarisharif, Patna-801507, Bihar, India
*Corresponding Author : Ajit Kumar Saxena, Department of Pathology/Lab Medicine, All India Institute of Medical Sciences, Phulwarisharif, Patna-801507, Bihar, India, Tel: + 91 7781012677, Email: [email protected]

Received Date: Jul 15, 2019 / Accepted Date: Aug 22, 2019 / Published Date: Aug 29, 2019

Abstract

Genetic variants of transforming growth factor beta receptors type-1 (TGF-βR1) are involved in cellular signalling pathway and their mutations encoded amino acids involved in protein structure has not been defined. Present study evaluate the frequency of TGF-βR1 gene mutation, copy number variation (CNV) and DNA sequencing for nucleotide changes followed by prediction of 3D protein model for ligand binding sites. Clinically diagnosed cases of Wilm’s tumour were used for genetic studies using RT-PCR for determine the frequency of gene mutations, CNVs and changes in nucleotide were observed by DNA sequencing (Sanger’s method). Frequency of TGF-βR1 gene mutation was 18.18% observed in WT cases with respect to controls. Similarly, the Tm value (mean) was 90.70 shifted to 91.0 showing significant differences (p=0.24) and C.I. at 95% varying between 2.09-7.09 with copy number variations showing S.D=0.37 and C.I. at 95% 0.337- 0.906. Sequencing data reveals the appearance of two nucleotide sequences TGA→TCA and TGA→CCC, which translates amino acid serine and proline, respectively and consider as “stop codon”. Further mutations were indentified in the form of Insertion/Deletions and 3-D helical structure was predicted for the ligand binding capacity to develop new molecules for cancer therapeutics based on pharmacogenomics.

Keywords: TGF-βR1; Wilms’ tumour; DNA sequencing; Molecular docking

Citation: Saxena AK, Singh V, Aprajita, Kumar A, Tiwari M, et al. (2019) Stop Codons of TGF βRI Gene Modulate the Functional Activity of 3D Structure and their Genetic Susceptibility in the Case of Wilm’s Tumour. J Cancer Sci Ther 11: 251-255.

Copyright: © 2019 Saxena AK, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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