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Test for fetal sex chromosome defects wins patent
  • By Nam Doo-hyun
  • Published 2018.01.10 14:39
  • Updated 2018.01.10 14:39
  • comments 0

A local firm has won a patent in testing fetal sex chromosome abnormalities using next-generation sequencing (NGS), amid a rise in the number of first-time mothers aged over 35.

The Korean Intellectual Property Office registered the patent for Eone Diagnomics Genome Center (EDGC)’s “new method in screening a fetus’ sex and sex chromosome abnormalities in various platforms” as of Jan. 5. The researchers were Kwon Chang-hyeok, Yoon Sun-young, and Lee Min-seob.

Genetic disorders caused by sex chromosome aneuploidy include Klinefelter syndrome (possible abnormalities in intelligence, sexual gland’s function, and physical development), triple X syndrome (light disorders in mental development, interpersonal relations), Turner syndrome (short stature, ear deformity, heart defects, kidney problems, osteoporosis, type-2 diabetes, hypothyroidism, ovaries cancer possible), and XYY syndrome (possible aggressive tendency).

The patented technology analyzing NGS data not only raises the accuracy of screening of fetal sexes but enables early detection of sex chromosome abnormalities, the researchers said.

The patented technology extracts DNA from maternal biological samples and conducts NGS on more than two platforms. Then, the technology calculates data from each platform, uses the analyzed chromosome values, and screens sex chromosome abnormalities.

Maternal biological samples used for analysis include blood, plasma, serum, urine, and saliva.

“Many chromosome-related diseases are related to the number of copies of sex chromosomes, as well as autosomal changes,” the researchers said.

Recently, people detect sex chromosome aneuploidy using fetal cell DNA and NGS, according to the researchers. Due to its low accuracy compared to that of autosomal aneuploidy, they quantify the number of chromosomes to screen it, they added.

“Such method has a ‘sequencing bias’ between the sequence similarity of chromosomes X and Y, and the sequence analysis,” the researchers said. “Most of the methods find it difficult to screen sex chromosome aneuploidy due to these issues.”

EDGC, the holder of the patented technology, is a non-listed firm. Late last year, the company submitted a request to the Korea Exchange for a review to be listed on Kosdaq under the “technology exception policy” that makes listing easier for firms with technological growth potentials.


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