Early detection using dual-specific probe technique for genetic mutation of congenital cataract lens protein / 国际眼科杂志(Guoji Yanke Zazhi)

ABSTRACT

· AIM:To screen congenital cataract in the early stage using dual-specific probe technique composed of DNA hybridization and chromogenic probe.· METHODS:The mRNA was isolated from venous blood of 14 congenital cataract patients with autosomal dominant inheritance in 3 chromosomes.Based on genetic mutats of CRYAB gene,DNA probe,capture probe and signal probe were designed.The sandwich structures containing capture probe,DNA probe and signal probe was used to detect genetic mutants in 8 samples from one family;and ELISA was used to detect the contents fluctuation of Crystallin alpha B.· RESULTS:The dual-specific probe technique detected the minimum genetic mutation of Crystallin alpha B in congenital cataract samples,various mutations detection rate was between 99.5％ and 99.7％.In ELISA detection,serum Crystallin alpha B level increased,and detection rate was 85.9％.Compared with ELISA assay,this novel assay was more sensitive.· CONCLUSION:The novel dual-specific probe method is quite convenient for detection of genetic mutants of congenital cataract;and for its high sensitivity and repeatability,it is of great potential in clinically prenatal diagnosis,and it might play significant roles in eugenic and superior nurture.