Xploration Of Methods To Map Chromosome Reakage-reunion Points Of46,XX,T(5;15)(Q21.1;Q21.2) Reciprocal Translocation

Background Reciprocal translocations can cause genetic diseases by distupting or inactivating specific genes. Traditional methods of mapping chromosome breakage-reunion points are rather ineffective. Array painting and next-generation sequencing strategies have improved the efficiency with technically challenging and high cost.Objective In order to establish the strategy to map chromosome breakage-reunion points, and search for relationship between the arrangement and the observed phenotype, cytogenetic analysis, molecular cytogenetic analysis and molecular genetic analysis were performed to one case with46,XX,t(5;15)(q21.1;q21.2)15pss reciprocal translocation.Methods Fluorescence in situ hybridization with small DNA probes, long-PCR and laser microdissection with PCR were performed to be three strategies to map chromosome breakage-reunion points.Results Fluorescence in situ hybridization with small DNA probes, long-PCR didn’t achieve the expectant purpose, and laser microdissection with PCR mapped accurate chromosome breakage-reunion points to within2kb.Conclusions Laser microdissection with PCR is appropriate to fluorescence in situ hybridization with small DNA probes and long-PCR for mapping chromosome breakage-reunion points.