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Title:
METHOD FOR CONSTRUCTING LIBRARY FOR NON-INVASIVE PRENATAL FETAL β-THALASSEMIA GENE MUTATION DETECTION, DETECTION METHOD AND KIT
Document Type and Number:
WIPO Patent Application WO/2018/133547
Kind Code:
A1
Abstract:
A method for constructing a library for non-invasive prenatal fetal β-thalassemia gene mutation detection, a detection method and a kit. In the method for constructing the library, a specific linker is ligated to a free DNA fragment of maternal peripheral blood, and then a pre-amplification product of a linker ligation product is divided into two parts; two rounds of specificity amplification are independently performed by using an upstream and downstream primer of a target site respectively, wherein the target site may be enriched with high specificity, thereby significantly improving the specificity of primer amplification. In addition, two rounds of specificity amplification are performed by using upstream and downstream primer sets of a plurality of SNP sites which are used for calculating the proportion of fetal free DNA, wherein the proportion of fetal free DNA may be efficiently and accurately calculated. Sequencing the library may accurately and efficiently detect β-thalassemia gene mutations, the results thereof being consistent with classifications from amniotic fluid puncture detection, but said method is significantly superior to amniotic fluid puncture detection in terms of safety, non-invasiveness and efficiency.

Inventors:
WANG XIAOFENG (CN)
XU XIANGMIN (CN)
ZENG HUAPING (CN)
SONG ZHUO (CN)
Application Number:
PCT/CN2017/113233
Publication Date:
July 26, 2018
Filing Date:
November 28, 2017
Export Citation:
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Assignee:
GENETALKS BIO TECH CHANGSHA CO LTD (CN)
International Classes:
C12Q1/68; C12Q1/00; C40B50/00; C40B50/06
Domestic Patent References:
WO2014029093A12014-02-27
Foreign References:
CN104894279A2015-09-09
CN106755486A2017-05-31
CN104846089A2015-08-19
CN104232777A2014-12-24
Other References:
"Non-official translation: Applied research of non-invasive prenatal diagnostic test for beta-thalassaemia using second generation sequencing technology on maternal plasma to track fetal free DNA", CHINA OUTSTANDING DOCTORAL DISSERTATIONS FULL-TEXT DATABASE, MEDICINE AND HEALTH TECHNOLOGY SERIES, 15 January 2015 (2015-01-15)
Attorney, Agent or Firm:
CHANGSHA ZONEYOUNG INTELLECTUAL PROPERTY AGENCY (GENERAL PARTNERSHIP) (CN)
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