The Chinese University of Hong Kong

Yu Kwan Tong

Yuk Ming Dennis Lo

Chunming Ding

Wai Kwun Rossa Chiu

Rossa Wai Kwun Chiu

Shengnan Jin

Siu Chung Stephen Chim

Wai Yi Tsui

Rossa Wai Chiu

Yuk Ming Lo

Siu Chung Chim

Disclosed herein are methods and kits for selectively amplifying, detecting or quantifying a DNA fragment with a specific end sequence, especially generated following restriction enzyme digestion. This method can be used, for example, to detect a hypomethylated DNA fragment. This methods and kits are especially useful in detecting or quantifying a hypomethylated fetal DNA fragment in a maternal plasma sample containing a corresponding hypermethylated maternal DNA fragment.

Methods and kits for selectively amplifying, detecting or quantifying target DNA with specific end sequences

The present invention relates to a new, non-invasive method for detecting chromosomal aneuploidy by analyzing a sample from a pregnant woman. The detection is based on the ratio between the amount of a fetal methylation marker located on a chromosome relevant to the aneuploidy and the amount of a fetal genetic marker located on a reference chromosome, offering improved accuracy.

Method for detecting chromosomal aneuploidy

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Hong Kong, China

Yu Kwan Tong