Title:
METHOD FOR SIMULTANEOUSLY COMPLETING GENE LOCUS, CHROMOSOME AND LINKAGE ANALYSIS
Document Type and Number:
WIPO Patent Application WO/2017/084624
Kind Code:
A1
Abstract:
A method for simultaneously completing gene locus, chromosome and linkage analysis. The method comprises the following steps: acquire an embryonic cell sample, whole genome amplification, target gene mutation locus amplification, library building of a whole genome amplification product and a target gene mutation locus, high-throughput sequencing, and data analysis; and by utilizing a whole genome amplification technology and combining the high-throughput sequencing, a plurality of comprehensive detection items is completed in one step. The method provides a favorable condition for a trace sample, not only can be used for PGD detection to determine whether embryos carry virulence genes or not and an abnormal chromosome copy number situation, but also is suitable for genetic screening of the embryos of older women suffering from recurrent abortion, one-step completion of multiple detection of a single sample is realized, the operation is simple, the period is short, and the feasibility is strong.
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Inventors:
XIE XIAOLIANG (CN)
QIAO JIE (CN)
LU SIJIA (CN)
YAN LIYING (CN)
TANG FUCHOU (CN)
HUANG LEI (CN)
QIAO JIE (CN)
LU SIJIA (CN)
YAN LIYING (CN)
TANG FUCHOU (CN)
HUANG LEI (CN)
Application Number:
PCT/CN2016/106445
Publication Date:
May 26, 2017
Filing Date:
November 18, 2016
Export Citation:
Assignee:
SHANGHAI XUKANG MEDICAL SCIENCE & TECH CO LTD (CN)
International Classes:
C12Q1/68
Foreign References:
| CN105543339A | 2016-05-04 | |||
| CN104711362A | 2015-06-17 | |||
| CN104745718A | 2015-07-01 | |||
| CN103890191A | 2014-06-25 | |||
| CN104004817A | 2014-08-27 |
Other References:
SUN, XIAOFANG ET AL.: "Diagnose Thalassemia Gene Mutation Based on MALBAC and MDA methods in Single Biology Cellular Scale", PROCEEDINGS OF THE 14 TH ACADEMIC CONFERENCE OF THE CHINESE MEDICAL GENETICS, 1 November 2015 (2015-11-01)
YIN, XUYANG ET AL.: "Massively Parallel Sequencing for Chromosomal Abnormality Testing in Trophectoderm Cells of Human Blastocysts", BIOLOGY OF REPRODUCTION., vol. 88, no. 3, 24 January 2013 (2013-01-24), XP055383100
CHEN, XIAOLIN ET AL.: "Combined Multiple Displacement Amplification and Allele-Specific PCR to Amplify the Survival Motor Neuron (SMN) Gene from Single Cell", JOURNAL OF REPRODUCTION AND CONTRACEPTION, vol. 30, no. 6, 30 June 2010 (2010-06-30)
YIN, XUYANG ET AL.: "Massively Parallel Sequencing for Chromosomal Abnormality Testing in Trophectoderm Cells of Human Blastocysts", BIOLOGY OF REPRODUCTION., vol. 88, no. 3, 24 January 2013 (2013-01-24), XP055383100
CHEN, XIAOLIN ET AL.: "Combined Multiple Displacement Amplification and Allele-Specific PCR to Amplify the Survival Motor Neuron (SMN) Gene from Single Cell", JOURNAL OF REPRODUCTION AND CONTRACEPTION, vol. 30, no. 6, 30 June 2010 (2010-06-30)
Attorney, Agent or Firm:
XU & PARTNERS, LLC. (CN)
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