Journal of Blood Disorders & Transfusion

Lam Kah Yuen

Publications

• Research Article
  A Novel Missense Mutation of F 9 Gene in Hemophilia B Patients
  Author(s): Lam Kah Yuen, Zubaidah Zakaria, Yuslina Mat Yusoff, Ezalia Esa, Faridah Md Afandi and Faraizah Dato Abd KarimLam Kah Yuen, Zubaidah Zakaria, Yuslina Mat Yusoff, Ezalia Esa, Faridah Md Afandi and Faraizah Dato Abd Karim
  
  Background: Hemophilia B is an X-linked recessive disorder caused by mutations in the coding sequence of F9 gene, leading to dysfunctional Factor IX (FIX) protein. Objectives: This study is to identify novel and recurrent mutations in hemophilia B patients. Method and Materials: In this study, 9 hemophilia B patients were screened on 8 exons using polymerase chain reaction (PCR) and direct sequencing. Results: We identified 6 point mutations, including 4 missense mutations and 2 nonsense mutations. One of the six point mutations is a novel mutation (NM_000133.3:c.230T>G) which has not been reported previously in hemophilia B database. Single nucleotide transversion of Thymine to Guanine occurs at nucleotide position 230, leading to amino acids substitution from Valine to Glycine at cod.. View More»
  DOI: 10.4172/2155-9864.1000383

  Abstract PDF