Device for detecting aneuploidy of fetus chromosomes based on single-sample peripheral blood

A chromosome and peripheral blood technology, applied in special data processing applications, instruments, electrical digital data processing, etc., to achieve cost reduction, good scalability, and a wide range of applications

Active Publication Date: 2015-09-30
CAPITALBIO GENOMICS
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0005] However, the above detection methods also have their own limitations

Method used

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  • Device for detecting aneuploidy of fetus chromosomes based on single-sample peripheral blood
  • Device for detecting aneuploidy of fetus chromosomes based on single-sample peripheral blood
  • Device for detecting aneuploidy of fetus chromosomes based on single-sample peripheral blood

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Embodiment Construction

[0035] A device for detecting fetal chromosomal aneuploidy based on a single sample of peripheral blood, including:

[0036] Sequencing data processing unit: used to compare the nucleotide sequence obtained by sequencing with the standard sequence of the human genome to determine the chromosome corresponding to the nucleotide sequence;

[0037] Result analysis unit: The nucleic acid sequences belonging to the same chromosome are divided into short sequences and long sequences. The length of the short sequence is 101~150bp and the length of the long sequence is 151~200bp; when the chromosome is an autosome, it belongs to the same chromosome When there are more short sequences than long sequences, it is judged that the chromosome to be tested is an aneuploid chromosome.

[0038] The amount of short sequences belonging to the same chromosome is more than that of long sequences, which means that the amount is statistically significantly different, that is, the P value is less than 0.05. ...

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Abstract

The invention discloses a device for detecting the aneuploidy of fetus chromosomes based on single-sample peripheral blood. The device comprises a sequencing data processing unit and a result analysis unit. Whether the chromosomes to be detected are aneuploid chromosomes or not are judged by comparing the quantity of short sequences of 101-150 bp with the quantity of long sequences of 151-200 bp on the same chromosome. According to the device, self control of samples is conducted, and accuracy is high; the dependency of fetus free DNA concentration is small, and the false-negative problem of the aneuploidy of the chromosomes under the condition of low fetus free DNA concentration is solved to a great extent; moreover, the requirement for the sequencing data size is low compared with an original method, and thus cost can be further lowered.

Description

Technical field [0001] The invention relates to a diagnostic device, in particular to a detection device for fetal chromosome aneuploidy. Background technique [0002] Chromosomal aneuploidy refers to the increase or decrease in the number of one or several chromosomes in a cell relative to the normal 46 chromosomes of humans, which is closely related to the significant morbidity and mortality in infants and young children. The incidence of chromosomal abnormalities in newborns in my country is 1 / 60, including 21-trisomy syndrome (Down’s syndrome), 18-trisomy syndrome (Edward’s syndrome) and 13-trisomy syndrome (Patau 'S syndrome) is the three most important autosomal aneuploidy diseases, and the incidence in newborns is 1 / (600-800), 1 / (3500-8000) and 1 / (7000-20000). Prenatal diagnosis of fetal chromosomal aneuploidy is an important means to reduce birth defects and improve the quality of the birth population. Traditional amniocentesis, chorionic villus biopsy, umbilical vein pu...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/22
Inventor 尹鸿瑛彭春方何铮陈丹陈样宜黄铨飞
Owner CAPITALBIO GENOMICS
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