title: Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification.
abstract: OBJECTIVE
  To screen deletions/duplications of the RB1 gene in a large cohort of Iranian patients using the multiplex ligation-dependent probe amplification (MLPA) technique.
  
  
  METHODS
  A total of 121 patients with retinoblastoma, involving 55 unilateral and 66 bilateral or familial retinoblastomas, were included in this study. Among these patients, 121 blood and 43 tissue samples were available. DNA was extracted from the blood and tissue samples and analyzed with an RB1-specific MLPA probe set. The mutation findings were validated with SYBR Green Real-Time PCR.
  
  
  RESULTS
  Twenty-two mutations were found in 21 patients; of these, ten mutations were detected in patients with isolated unilateral retinoblastoma.
  
  
  CONCLUSIONS
  Our results suggested that MLPA is a fast, reliable, and powerful method for detecting deletions/duplications in patients with retinoblastoma.
authors: Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
authors: Ali
authors: A
authors: Ahani
authors: Mohammad Taghi
authors: MT
authors: Akbari
authors: Kioomars
authors: K
authors: Saliminejad
authors: Babak
authors: B
authors: Behnam
authors: Mohammad Mehdi
authors: MM
authors: Akhondi
authors: Parvaneh
authors: P
authors: Vosoogh
authors: Farriba
authors: F
authors: Ghassemi
authors: Masood
authors: M
authors: Naseripour
authors: Gholamreza
authors: G
authors: Bahoush
authors: Hamid Reza Khorram
authors: HR
authors: Khorshid
mesh_terms: D016161:Genes, Retinoblastoma; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007223:Infant; D007492:Iran; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D019572:Retinal Neoplasms / Q000235:genetics*; D012175:Retinoblastoma / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics*
chemical_list: D016160:Retinoblastoma Protein