Title:
JOINT LYMPHANGIOLEIOMYOMATOSIS DETECTION METHOD AND USE THEREOF
Document Type and Number:
WIPO Patent Application WO/2021/114422
Kind Code:
A1
Abstract:
Disclosed is a joint lymphangioleiomyomatosis (LAM) detection method and the use thereof, which fall within the technical field of gene detection. The method comprising the following steps: carrying out liquid phase capture targeting sequencing, which involves: designing a Panel for TSC1 and TSC2 gene whole exon coding regions, which are heavily related to LAM, and mutant genes, which are closely related to solid tumors, constructing a gDNA library, carrying out hybrid capture, and sequencing on a machine; carrying out sorting, which involves: analyzing the above-mentioned sequencing data by means of bioinformatics processing, wherein if the TSC1 and TSC2 genes are negative, carrying out supplementary detection by using a chromosome chip analysis method; if a single strike site is detected, performing supplementary detection by using multiplex ligation-dependent probe amplification; and if sites having no clear sources of a somatic mutation and an embryonic system mutation are detected, carrying out supplementary detection by using Sanger detection. The method improves the positive variation detection ratio of LAM patients.
Inventors:
OU XIAOHUA (CN)
LIU FEIFEI (CN)
SUN MINGMING (CN)
HU CHANGMING (CN)
DENG JUNHAO (CN)
YU SHIHUI (CN)
ZHAO WEIWEI (CN)
HUANG XIAOQIANG (CN)
WANG CHUNHUI (CN)
LIU FEIFEI (CN)
SUN MINGMING (CN)
HU CHANGMING (CN)
DENG JUNHAO (CN)
YU SHIHUI (CN)
ZHAO WEIWEI (CN)
HUANG XIAOQIANG (CN)
WANG CHUNHUI (CN)
Application Number:
PCT/CN2019/129173
Publication Date:
June 17, 2021
Filing Date:
December 27, 2019
Export Citation:
Assignee:
GUANGZHOU KINGMED DIAGNOSTICS GROUP CO LTD (CN)
International Classes:
C12Q1/6886; C12N15/11; C12Q1/6869
Foreign References:
| CN107988362A | 2018-05-04 | |||
| CN110885879A | 2020-03-17 | |||
| CN108148910A | 2018-06-12 | |||
| US20190056402A1 | 2019-02-21 |
Other References:
LIU JIE, ZHAO WEIWEI, OU XIAOHUA, ZHAO ZHEN, HU CHANGMING, SUN MINGMING, LIU FEIFEI, DENG JUNHAO, GU WEILI, AN JIAYING, ZHANG QING: "Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM)", PLOS ONE, PUBLIC LIBRARY OF SCIENCE, UNITED STATES, 1 January 2019 (2019-01-01), United States, pages e0226400 - e0226400, XP055819882, Retrieved from the Internet [retrieved on 20210630], DOI: 10.1371/journal.pone.0226400
MARK NELLIST;RUTGER WW BROUWER;CHRISTEL EM KOCKX;MONIQUE VAN VEGHEL-PLANDSOEN;CAROLINE WITHAGEN-HERMANS;LIDA PRINS-BAKKER;MARIANNE: "Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations", BMC MEDICAL GENETICS, BIOMED CENTRAL, LONDON, GB, vol. 16, no. 1, 25 February 2015 (2015-02-25), GB, pages 10, XP021213793, ISSN: 1471-2350, DOI: 10.1186/s12881-015-0155-4
MARK NELLIST;RUTGER WW BROUWER;CHRISTEL EM KOCKX;MONIQUE VAN VEGHEL-PLANDSOEN;CAROLINE WITHAGEN-HERMANS;LIDA PRINS-BAKKER;MARIANNE: "Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations", BMC MEDICAL GENETICS, BIOMED CENTRAL, LONDON, GB, vol. 16, no. 1, 25 February 2015 (2015-02-25), GB, pages 10, XP021213793, ISSN: 1471-2350, DOI: 10.1186/s12881-015-0155-4
Attorney, Agent or Firm:
GUANGZHOU SINO PATENT & TRADEMARK AGENT CO., LTD. (CN)
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