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Three-dimensional ultrasound with maximal mode rendering: a novel technique for the diagnosis of bilateral or unilateral absence or hypoplasia of nasal bones in second-trimester screening for Down syndrome.三维超声最大模式渲染：孕中期唐氏综合征筛查中诊断双侧或单侧鼻骨缺失或发育不全的新技术。
Ultrasound Obstet Gynecol. 2005 Jan;25(1):19-24. doi: 10.1002/uog.1805.
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Prenatal diagnosis of common aneuploidies using multiplex quantitative fluorescent polymerase chain reaction.使用多重定量荧光聚合酶链反应进行常见非整倍体的产前诊断。
Fetal Diagn Ther. 2004 Nov-Dec;19(6):496-503. doi: 10.1159/000080162.
3
Quantitative real-time PCR technique for rapid prenatal diagnosis of Down syndrome.用于唐氏综合征快速产前诊断的定量实时聚合酶链反应技术
Prenat Diagn. 2004 Sep;24(9):704-7. doi: 10.1002/pd.968.
4
Same day diagnosis of Down's syndrome and sex in single cells using multiplex fluorescent PCR.使用多重荧光聚合酶链反应在单细胞中同日诊断唐氏综合征和性别。
Mol Pathol. 1998 Jun;51(3):164-7. doi: 10.1136/mp.51.3.164.
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HIV-1 proviral DNA polymerase chain reaction detection in chorionic villi after exclusion of maternal contamination by variable number of tandem repeats analysis.通过可变数目串联重复序列分析排除母体污染后，对绒毛膜绒毛进行HIV-1前病毒DNA聚合酶链反应检测。
AIDS. 1996 Jun;10(7):711-5. doi: 10.1097/00002030-199606001-00004.
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Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR.通过定量荧光多重聚合酶链反应快速检测21三体和18三体以及进行性别鉴定。
Hum Genet. 1996 Jul;98(1):55-9. doi: 10.1007/s004390050159.
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Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms.使用定量聚合酶链反应和小串联重复多态性诊断唐氏综合征及其他非整倍体疾病。
Hum Mol Genet. 1993 Jan;2(1):43-50. doi: 10.1093/hmg/2.1.43.
8
Rapid detection of trisomy 21 by quantitative PCR.通过定量聚合酶链反应快速检测21三体综合征
Hum Genet. 1993 Jul;91(6):567-70. doi: 10.1007/BF00205081.
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Rapid detection of selected aneuploidies by quantitative fluorescent PCR.通过定量荧光PCR快速检测特定非整倍体
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A simple salting out procedure for extracting DNA from human nucleated cells.一种从人有核细胞中提取DNA的简单盐析方法。
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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.

DOI:10.1002/jcla.21593
PMID:23686780
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6807619/
Abstract

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.

摘要

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。