Title:
KIT FOR DETECTING CHROMOSOME ANEUPLOIDY AND SINGLE GENE MUTATIONS AND USE
Document Type and Number:
WIPO Patent Application WO/2023/240755
Kind Code:
A1
Abstract:
Disclosed are a kit for detecting chromosome aneuploidy and single gene mutations and a use: comprising: preparing a plasma free DNA library of a pregnant woman to be detected; hybridizing the plasma free DNA library of said pregnant woman with a probe in a probe group to obtain a hybridization product; collecting a target sequence from the hybridization product to obtain a plasma free DNA capture library of said pregnant woman; sequencing the plasma free DNA capture library of said pregnant woman to determine whether said pregnant woman and a fetus to be detected carry mutant genes involved in single gene diseases; extracting data of a non-target region from data in the plasma free DNA library of said pregnant woman; and calculating and determining whether the number of chromosomes 13, chromosomes 18, chromosomes 21, X chromosomes or Y chromosomes of the fetus is increased, decreased or normal. According to the present invention, integrated detection of chromosome deletion or increase and spontaneous mutation of 50 dominant genes is achieved by means of hybridization capture and high-throughput sequencing.
Inventors:
WU JIAN (CN)
JI XIAOWEN (CN)
WANG HAILI (CN)
JI XIAOWEN (CN)
WANG HAILI (CN)
Application Number:
PCT/CN2022/108179
Publication Date:
December 21, 2023
Filing Date:
July 27, 2022
Export Citation:
Assignee:
MYGENOSTICS CHONGQING GENE TECH CO LTD (CN)
International Classes:
C12Q1/68
Foreign References:
| CN114990207A | 2022-09-02 | |||
| CN110283904A | 2019-09-27 | |||
| US20080085836A1 | 2008-04-10 | |||
| AU2006224971A1 | 2006-09-21 | |||
| US20060252071A1 | 2006-11-09 | |||
| US20130172206A1 | 2013-07-04 |
Attorney, Agent or Firm:
BEIJING XINGTONG YINGTAI INTELLECTUAL PROPERTY AGENCY CO., LTD (CN)
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