双色竞争荧光 PCR 法检测 21 三体综合征
Molecular detection of trisomy 21 by bicolor competitive fluorescent PCR.
机构信息
Faculty of Medical Sciences, Dujiangyan City Medical Center, Dujiangyan Chengdu, Sichuan, China.
出版信息
J Clin Lab Anal. 2013 May;27(3):245-8. doi: 10.1002/jcla.21593.
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.
目的
建立一种快速、可靠、特异的检测 21 三体综合征（唐氏综合征）的方法。
方法
我们建立了一种双重荧光竞争聚合酶链反应（PCR）技术，用于测量唐氏综合征关键区（DSCR）的基因剂量，DSCR 是 21 号染色体上的单拷贝序列。另一个独特的单拷贝序列位于 2 号染色体（USC2）上，但不以甘油醛-3-磷酸脱氢酶（GAPDH）为参照基因。
结果
唐氏综合征患者外周血的 DSCR3/USC2 比值为 1.41∼1.74 比 0.93∼1.15，差异有统计学意义（p<0.01）。双重荧光竞争 PCR 技术可有效区分正常人和唐氏综合征患者。根据双重荧光定量竞争 PCR 检测，46 例孕妇中 3 例为唐氏综合征，43 例为正常，经核型分析证实。
结论
该技术可能是一种快速、特异的 21 三体综合征产前诊断方法。
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