Application of real-time fluorescence quantitative PCR to rapid molecular detection of Down's syndrome

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 22; no. 6; p. 621
• Main Authors: Huang, Yi-ning, Liao, Can, Tu, Xin-zhi, Yang, Xin, Yi, Cui-xing, Li, Li-xian
• Format: Journal Article
• Language: English
• Published: China 01.12.2005
• Subjects: Chromosomes, Human, Pair 1 - genetics; Chromosomes, Human, Pair 19 - genetics; Chromosomes, Human, Pair 21 - genetics; Down Syndrome - diagnosis; Down Syndrome - genetics; Humans; Polymerase Chain Reaction - methods; Reproducibility of Results
• ISSN: 1003-9406

To develop a rapid and reliable technique for the detection of Down's syndrome. The peripheral blood samples were collected from twenty-five Down's syndrome patients and fifty normal individuals. Four polymorphic loci on chromosomes 21, 1, 19 were amplified by real-time fluorescence quantitative PCR, and then four pairs of deltaCt values were analytically compared between the two groups. The deltaCt values of Down's syndrome patients were significantly lower than those of normal individuals, and the reference ranges for clinical application were primarily established. The difference between the two groups was highly significant (P < 0.001), and the reference ranges between the two groups were not overlapped. Real-time quantitative PCR technique can effectively differentiates Down's syndrome samples from the normal fetuses; furthermore, the results were consistent with those of the karyotype analysis. Real-time quantitative PCR is a fast and reliable method that may provide a new approach for rapid detection of Down's syndrome.