Rapid Detection Of The 22q11 Deletion With Quantitative Real-time PCR

Background 22q11 deletion syndrome is thought to be one of the most common recognizable genetic disorders,with an estimated prevalence of 1 in 4000 live births. The major clinical presentation is congenital heart defect (CHD) and decreased T-cell numbers or function, approximately 74% pations are born with CHD.Early recognition and prompt treatment of complications including hypocalcaemia and serious congenital heart defects can help to minimize subsequent developmental problems. Diagnosis of 22q11 deletion is often made by fluorescent in situ hybridization (FISH) and short tandem repeats (STRP) mark analysis. However, both of these methods have their own disadvantage. Real-time fluorescent quantitative PCR is a new technology, which can quantify exactly the production of PCR. In the study, the real-time PCR apply to diagnosis of 22q11 deletion. Objective To investigate the value of real-time fluorescence quantitative PCR in diagnosis of 22q11 deletion. Methods 140 patients with CHD and 20 normal controls were collected to extract gDNA and the real-time fluorescence quantitative PCR method was used to detect the original copies of chromosome 22 UFD1L gene and S100βgene and then the ratio of UFD1L/S100βwas calculated. These 140 cases were detected by STRP marker analysis.And then 30 cases were diagnosed by FISH. Results The PCR product ratios of UFD1L to S100βin 9 cases with 22q11 deletion diagnosed by FISH and 1 normal case by STRP marker analysis were ranged from 0.449 to 0.557,in another 130 cases and 20 healthy people,the ratios were 0.709 to 1.149. Conclusion Real-time fluorescence quantitative PCR is a valuable method for rapid and accurate diagnosis of 22q11 deletion.