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

Autor: Xuming Mo, Haitao Gu, Yuzhu Peng, Shilin Chen, Li Shen, Xu-ming Bian, Jingjing Zhang, Di Qiao, Chi Yang, Dong-Jin Wang, Juntao Liu, Long Yi, Xiaojian Wu, Yong-Zhong Jiang, Zhengfeng Xu, Li Cao, Yaping Wang
Rok vydání: 2009
Předmět:
Zdroj: ELECTROPHORESIS. 30:465-471
ISSN: 1522-2683
0173-0835
DOI: 10.1002/elps.200800321
Popis: 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.
Databáze: OpenAIRE
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