Research in Genes and Proteins Open Access

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Pakistan

Publications

• Research Article   
  In silico Analysis of Human ZNF141 Gene Causing Postaxial Polydactyly Type A Disease
  Author(s): Saqib Ishaq*, Abdul Aziz, Obaid Habib, Raheel Tahir, Muhammad Afzal, Muhammad Inam ul Haq, Musarrat Jabeen, Zaib Un Nisa, Khalid Usman and Muhammad Kashif
  
  Background: Postaxial polydactyly is a congenital disorder of the limb abnormalities by posterior extra digits. The ZNF141 gene mutation in the N-terminal region were recently linked with PAP typeA. The ZNF141 gene have two domain C2-H2. Typically, C2-H2 domain comprise two cysteine in one chain and two Histidine in other chain. The missence mutation occur in chromosome 4P16.3 varient ID Q15928.1, result amino acid changes at 474 of threonine into isoleucine. Methods: In this study a missense mutation determines by in Pakistani families which cause PAP type A. Whole exome sequencing identified by the missense mutation was carried out by the causative gene. Bioinformatics tools were used for confirmation of pathogenicity of the identified mutations. Results: The novel missense mutations, c.1420C>T; p.T474I in ZNF.. View More»
  

  DOI: 10.21767/RGP.4.3.22

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