title: Comparative study of three PCR-based copy number variant approaches, CFMSA, M-PCR, and MLPA, in 22q11.2 deletion syndrome.
abstract: Small submicroscopic DNA copy number variants represent an important source of variation in the human genome, human phenotypic diversity, and disease susceptibility. Consequently, there is a pressing need for the development of methods allowing the efficient, accurate, and cheap measurement of genomic copy number polymorphisms in clinical cohorts. The PCR-based strategies, being cost-effective and sensitive, are considered important in the development of screening techniques. PCR-based techniques such as multiplex PCR; multiplex ligation-dependent probe amplification; and a new single-tube assay technique, the competitive fluorescent multiplex STRP assay, have been applied to 22q11.2 detection, a typical example of deletion syndromes. In this study, we compared the reliability and application of these three techniques in a cohort of 17 patients affected with 22q11.2 deletion and 300 normal controls. All three techniques shared 100% sensitivity; however, the competitive fluorescent multiplex STRP assay had the lowest possibility of concurrent false-positive signals from two adjoining probes in a genomic region. Moreover, it is a relatively fast and low-cost procedure to detect the deletion of 22q11.2 in numerous patients with several minor symptoms of deletion syndromes. Multiplex PCR, a rapidly developing and cheap technique, allows detection of atypical deletions.
authors.affiliation: Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China.
authors.forename: Chi
authors.initials: C
authors.lastname: Yang
authors.forename: Xiangyu
authors.initials: X
authors.lastname: Zhu
authors.forename: Long
authors.initials: L
authors.lastname: Yi
authors.forename: Zhiyang
authors.initials: Z
authors.lastname: Shi
authors.forename: Hua
authors.initials: H
authors.lastname: Wang
authors.forename: Yali
authors.initials: Y
authors.lastname: Hu
authors.forename: Yaping
authors.initials: Y
authors.lastname: Wang
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003362:Cost-Benefit Analysis; D017931:DNA Primers / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D016133:Polymerase Chain Reaction / Q000191:economics* / Q000379:methods*; D012680:Sensitivity and Specificity; D013577:Syndrome
chemical_list: D017931:DNA Primers