Fluorescence Quantitative Pcr In The Diagnosis Of Genetic Diseases

Quantitative Polymerase Chain Reaction is a new biomolecular technology. This technology is sensitive, simple, fast and need no Radioisotope. After the completion of PCR, the product could be automatically analyzed and quantitated. Fluorescent Quantitative Polymerase Chain Reaction has showed its feasibility in many hereditary diseases, especially those mainly characterized by long-range deletions. In this dissertation, we studied the results of Fluorescent Quantitative Polymerase Chain Reaction in the diagnosis of following two common hereditary diseases: 1. a thalassemia. 2. Spinal Muscular Atrophy.Results: 1. The feasibility of Fluorescent Quantitative Polymerase Chain Reaction in the diagnosis of a thalassemia patientsa. Compare the amplification results of various cycles. Find out the best cycle number for easier distinction of different genotypes and less time consumption, b. Analyze specific peak height of different genotyes, judging if there exists overlapping among different genotypes.2. The feasibility of Fluorescent Quantitative Polymerase Chain Reaction in the diagnosis of Spinal Muscular Atrophy earner.Analyze the peak height of different genotyes, judging if there existsoverlapping between the deletion carrier and wide type. Compare the results of ABI Prism 377 sequencer and ABI Prism 3100 sequencer.Conclusion: The results of above showed that:1. 22 cycles are appropriate for shorter time consumption, enough PCR product output.2. In the diagnosis of a thalassemia, Fluorescent Quantitative Polymerase Chain Reaction cans easily distinct wide type, a?patient, HbH anemia patient and Bart edema fetus.3. In the diagnosis of Spinal Muscular Atrophy, Fluorescent Quantitative Polymerase Chain Reaction can easily distinct wide type, SMNt 7 exon deletion carrier, SMNt 8 exon deletion carrier, SMNt 7 exon deletion patient and SMNt 8 exon deletion patient.4. The sensitivity of ABI Prism 3100 sequencer is higher than ABI Prism 377sequencer.