Open AccessMolecular Detection of Trisomy 21 by Bicolor Competitive Fluorescent PCR
Author(s) -
Wang Yan,
Zhang Xiaofei,
ling Bo,
He Changxiao,
Xia Qingjie,
Chen Feng,
Miyamori Isamu,
Yang Zhao,
Fan Chunyuan
Publication year - 2013
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.21593
Subject(s) - trisomy , chromosome 21 , biology , microbiology and biotechnology , polymerase chain reaction , karyotype , gene , down syndrome , chromosome , prenatal diagnosis , fluorescence , real time polymerase chain reaction , fluorescence in situ hybridization , genetics , fetus , pregnancy , physics , quantum mechanics
Objective To develop a reliable and specific method for rapid prenatal diagnosis of Trisomy 21 (Down syndrome). Methods We established a dual color competitive fluorescent Polymerase Chain Reaction (PCR) to measure the gene dosage of Down syndrome critical region (DSCR), a single copy sequence in chromosome 21. Another unique single copy sequence located on chromosome 2 (USC2) but not glyceraldehyde‐3‐phosphate dehydrogenase (GAPDH) was chose as reference gene. Results The DSCR3/USC2 ratio of peripheral blood in trisomy 21 syndrome patients to normal subjects was 1.41∼1.74 to 0.93∼1.15, respectively ( p < 0.01). Dual color competitive fluorescent PCR technique effectively differentiates the normal subjects from the Down syndrome patients. Next, according to the dual color competitive fluorescence quantitative PCR, among the 46 pregnant women, 3 cases were Down syndrome and 43 cases were normal, and these were confirmed by cytogenetic karyotype analysis. Conclusion This indicated that the new technique may be a reliable and specific method for the rapid prenatal diagnosis of Trisomy 21.