A novel competitive fluorescent multiplex STR polymorphism assay for rapid, reliable and single-tube screening of 22q11.2 copy-number aberrations

• Published in: Electrophoresis Vol. 30; no. 3; pp. 465 - 471
• Main Authors: Yang, Chi, Shen, Li, Xu, Zhengfeng, Wu, Xiaojian, Mo, Xuming, Zhang, Jingjing, Wang, Dongjin, Wang, Yaping, Peng, Yuzhu, Cao, Li, Jiang, Yongzhong, Gu, Haitao, Chen, Shilin, Bian, Xuming, Liu, Juntao, Qiao, Di, Yi, Long
• Format: Journal Article
• Language: English
• Published: Weinheim WILEY-VCH Verlag 01.02.2009; WILEY‐VCH Verlag
• Subjects: 22q11.2; at-risk population; Chromosome Aberrations; Chromosomes, Human, Pair 22 - genetics; Competitive fluorescent multiplex STR polymorphism assay; cost effectiveness; Deletion; Duplication; electrophoresis; Fetus - metabolism; fluorescence; Gene Dosage; genetic polymorphism; Genetic Testing - methods; heart; Heart Defects, Congenital - diagnosis; Humans; Nucleic Acid Amplification Techniques - methods; phenotype; Polymorphism, Genetic; Screening; Spectrometry, Fluorescence - methods
• ISSN: 0173-0835; 1522-2683; 1522-2683
• DOI: 10.1002/elps.200800321

Copy‐number aberrations of the 22q11.2 region can lead to varied resulting and complex phenotypes. Routine screening for these common constitutional chromosomal abnormalities requires powerful tools. A competitive fluorescent multiplex STR polymorphism assay (CFMSA) was built for detecting these aberrations. With the introduction of an internal reference and distinguishable STR polymorphism markers, this competitive fluorescent multiplex STR polymorphism assay provides complementary information about polymorphism and gene dosage in one tube simultaneously, thereby enhancing the assay sensitivity. It was first tested in 110 normal controls, and was proven to have highly polymorphic and reliable gene dosage information. Then, 476 subjects with congenital heart defect were screened according to the testing strategy of the American Heart Association, and 17 deletions and 1 duplication of 22q11.2 were correctly identified. It is expected that this assay will serve as a cost‐effective alternative to existing assays for routine, large‐scale screening in all at‐risk individuals with either deletion or duplication in 22q11.2.