Method of detecting chromosomal abnormalities

A chromosomal abnormality and chromosomal technology, applied in biochemical equipment and methods, microbiological determination/inspection, instruments, etc.

Inactive Publication Date: 2015-10-07
PREMAITHA LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Furthermore, there is an inherent inability to efficiently sequence small homopolymeric runs (ie, runs of several identical bases)

Method used

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  • Method of detecting chromosomal abnormalities
  • Method of detecting chromosomal abnormalities

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Embodiment 1

[0126] Example 1: Detection of Trisomy 21 in Plasma Samples

[0127] In order to evaluate the effectiveness of the method of the present invention in diagnosing trisomy 21, according to routine procedures, plasma samples were obtained from normal pregnancy and trisomy 21 pregnancy respectively (for example, 5-20ml blood samples were drawn from the experimenter and the plasma was separated, and then Extract plasma DNA).

[0128] Plasma DNA was then sequenced using an Ion Torrent PGM device. For example, adapters are ligated, libraries are prepared and emulsion PCR is performed, followed by sequence analysis.

[0129] Sequence data of the order of 25bp-250bp is then obtained for a large number of individual molecules, typically 1-10 million reads.

[0130] Bioinformatics analysis was performed on the data as previously described. For example, using FASTX-Toolkit to eliminate duplicate reading. The data were then subjected to match analysis using Bowtie2 software exactly as...

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Abstract

The invention relates to a method of detecting chromosomal abnormalities, in particular, the invention relates to the diagnosis of fetal chromosomal abnormalities such as trisomy 21 (Down's syndrome) which comprises sequence analysis of cell-free DNA molecules in plasma samples obtained from maternal blood during gestation of the fetus.

Description

Area of invention [0001] The present invention involves the method of detecting chromosomal abnormalities. Specifically, the invention involves the diagnosis of fetal chromosomal abnormalities such as triteritality 21 (Donald syndrome), which includes non -cell plasma samples in the mother blood sample during the fetal pregnancy.Sequence analysis of DNA molecules. Invention background [0002] Down ’s Syndrome is a relatively common genetic obstacle, and about one of the live -producing babies suffers from the syndrome.This syndrome is caused by the existence of additional chromosomes 21 (triomorphic 21, T21), or less common, and is caused by most of the existence of the additional chromosomes.The triomatical (ie, T13 or T18) involved in other ivable chromosomes also occurs in living babies, but it is rare than T21. [0003] Generally, there is a non -rectification disease caused by an additional chromosomal or chromosomal defect, which causes disorders in the fetal DNA molecula...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68G16B30/10
CPCC12Q1/6883C12Q1/6879C12Q2600/156G06F19/22G16B30/00G16B30/10
Inventor C.E.S.罗伯茨R.奥尔德F.克雷亚
Owner PREMAITHA LTD
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