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Thalassemia detection kit and analysis system

A technology for thalassemia and thalassemia, which is applied in the measurement/testing of microorganisms, medical simulation, medical informatics, etc., and can solve problems such as unfavorable stability, accurate data, inability to accurately select, and loss of plasma free DNA molecules

Active Publication Date: 2019-10-25
CAPITALBIO GENOMICS
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Problems solved by technology

However, there are large experimental errors in the enrichment of short fragments of free DNA by experimental methods, and it is impossible to accurately select DNA in a certain length range. When removing long fragments, it is also easy to mistakenly remove a large number of short fragments of DNA, which significantly depletes plasma free DNA. The number of DNA molecules reduces the number of effective read lengths for unique alignment, which is not conducive to obtaining stable and accurate data

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  • Thalassemia detection kit and analysis system
  • Thalassemia detection kit and analysis system
  • Thalassemia detection kit and analysis system

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Embodiment Construction

[0094] Below in conjunction with example, further illustrate the technical scheme of the present invention.

[0095] It should be noted that the examples are not intended to limit the present invention, and any modifications, equivalent replacements and improvements made within the spirit and principles of the present invention fall within the scope of protection required by the present invention.

[0096] Step 1, Sample Collection, Plasma Separation and DNA Extraction

[0097] 150 samples of peripheral blood plasma from pregnant women, 100 samples were used to construct the classifier, and 50 samples were used to evaluate the accuracy of the classifier. The husband and wife were confirmed to be Southeast Asian thalassemia (SEA thalassemia) by early pregnancy thalassemia gene screening, and the fetus was diagnosed prenatally to confirm the α-thalassemia gene type it carried. All plasma samples were collected within 4 hours for plasma separation and plasma cell-free DNA extrac...

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Abstract

The invention discloses a thalassemia detection kit and an analysis system. A reference probe set is optimized, thalassemia mutation detection accuracy can be improved, more effective sequences can beretained through a specific UID (user identifier), the accuracy of detection results is further improved, samples of known antenatal diagnosis results serve as training sets, so that multidimensionalBayesian prior probability is constructed, samples to be detected can be effectively classified, and classification accuracy is remarkably improved.

Description

technical field [0001] The invention relates to prenatal non-invasive detection technology, in particular to a test kit and analysis system for thalassemia detection. Background technique [0002] Fetal genome abnormality detection and detection of fetal DNA genetic abnormalities are highly safe genetic detection technologies for mothers and babies. Currently, they mainly include fetal chromosomal abnormality detection and fetal single gene disease detection. [0003] Single-gene genetic disease refers to a genetic disease controlled by a pair of alleles. According to the statistics of the online Mendelian genetic database, there are currently more than 6,000 single-gene genetic diseases, and more than 3,700 of them have clearly studied the pathogenic mechanism and molecular mechanism. kind. Common monogenic genetic diseases include G6PD deficiency (favism), thalassemia, pseudohypertrophic muscular dystrophy (DMD), deafness, cataract, etc. [0004] Thalassemia is one of th...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11G16H50/50
CPCC12Q1/6883C12Q2600/156G16H50/50
Inventor 黄铨飞彭春方陈样宜饶兴蔷糜庆丰
Owner CAPITALBIO GENOMICS
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