The Use Of The Primed In Situ Labeling Technique In The Diagnosis Of Chromosomal Diseases

Objective: To establish a new, rapid and clinical practical molecular cytogenetic method for diagnosing the chromosomal diseases as well as guiding aristogenesis and prenatal diagnosis.Method: The primed in situ labeling (PRINS) reactions with chromosome 21 specific primer were performed on 30 peripheral lymphocyte samples of mental retardation children comparing with common chromosome karyotype analysis. By using Tyramine signal amplification kit we carried out chromosomal subtelomeric PRINS labeling detection in the long arm of chromosome 4. Also we performed PRINS examination in the long arm of chromosome 1 from 29 peripheral lymphocyte samples of mental retardation children by using Tyramine signal amplification kit and mutil-group primersResults: The specific chromosomal signals were obtained through PRINS method on both metaphase and interphase nuclei. In the samples of 21-trisomy, an average labeling signals of 89 percent had displayed with 3 but in the samples of non-21-trisomy, an average labeling signals of 93 percent had displayed with 2. We set up successfully a chromosomal subtelomeric PRINS labeling technique in both long arms of chromosome 1 and chromosome 4 (1q and 4q). The experimental result of chromosomal subtelomeric PRINS labeling technique in long arm of chromosome 1 was verificated by using FISH. In 29 samples of mental retardation, an average labeling signals of 92 percent had displayed successfully.Conclusion: PRINS is a new, rapid and specific method to detect chromosome 1,4 and 21 ameuploidy. PRINS provides the method of verification and supplement to traditional cytogenetics. The new technique is useful to clinical diagnosis of chromosomal diseases.