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Retinoblastoma (Rb) is a malignant retinal tumor on young children which is often founded before the age of 5. This cancer disease appears when both of RB1 alleles on 13q14.2 chromosome are mutated. The aim of this research is to evaluate the ability of Multiplex Ligation-dependent Probe Amplification (MLPA) in screening of RB1 gene insertion/deletions in Vietnamese patients with Rb. Genomic DNA was isolated from peripheral blood of the research subjects and subsequently analyzed by MLPA technique. To prove the results of MLPA, quantitative real-time PCR was used for determining the RB1 gene copy number for all samples. Two significant deletion mutations were identified on two different Rb patients, one is the deletion from exon 4 to exon 27 recorded on KVM38 sample, and the other is the complete removal of an allele on KVM21 sample. The MLPA showed a complete correlation with real-time PCR results. These are the disease causing mutations, can be inherited and they are important evidences for genetic counseling and clinical management. Those results have proven the high speed and reliability of MLPA method in identifying deletion/duplication mutations on Rb patients.

STUDY ON APPLICATION OF MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION (MLPA) ASSAY IN MOLECULAR DIAGNOSIS OF RETINOBLASTOMA