Kit for non-invasive prenatal detection of 12 chromosome microdeletion micro-duplex syndromes and special probe set of kit

A technology for chromosomal microdeletion and syndrome, applied in the field of kits and special probe sets, which can solve the problems of long cycle time, complex data analysis, and high cost of whole genome sequencing

Active Publication Date: 2019-04-16
北京迈基诺基因科技股份有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There are problems such as high cost, complex data analysis, and long cycle for direct whole genome sequencing

Method used

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  • Kit for non-invasive prenatal detection of 12 chromosome microdeletion micro-duplex syndromes and special probe set of kit
  • Kit for non-invasive prenatal detection of 12 chromosome microdeletion micro-duplex syndromes and special probe set of kit
  • Kit for non-invasive prenatal detection of 12 chromosome microdeletion micro-duplex syndromes and special probe set of kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0145] Example 1. Preparation of a kit for non-invasive prenatal detection of 12 chromosomal microdeletion and microduplication syndromes

[0146] 1. Preparation of the probe set

[0147] 1. Design and synthesize 600 probes based on the chromosomal regions corresponding to the 12 chromosomal microdeletion and microduplication syndromes (shown in the third column of Table 1). Each probe consists of 108 nucleotides, from the 5'end to the 3'end including DNA fragment 1, DNA fragment 2, and DNA fragment 3. The nucleotide sequence of DNA fragment 1 is 5'-GACTACATGGGACAT-3'. The nucleotide sequence of DNA fragment 3 is 5'-GGAACCTACGACGTA-3'. Each DNA fragment 2 consists of 78 nucleotides. DNA fragment 2 is a part of the chromosomal region corresponding to 12 types of chromosomal microdeletion and microduplication syndrome.

[0148] 2. After completing step 1, label the probe with biotin. The specific steps are as follows: mix 600 probes uniformly in a total volume of 1.2mL ddH 2 In O,...

Embodiment 2

[0160] Example 2. Establishment of a method for non-invasive prenatal detection of whether a fetus has chromosome microdeletion and microduplication syndrome with the kit prepared in Example 1

[0161] After a lot of experiments, the inventor of the present invention established a method for non-invasive prenatal detection of whether a fetus has chromosome microdeletion and microduplication syndrome by using the kit prepared in Example 1. Specific steps are as follows:

[0162] 1. Extraction of free DNA from the plasma of pregnant women to be tested

[0163] 1. Collect 10 mL of peripheral blood from the pregnant woman to be tested with EDTA anticoagulant blood vessel, centrifuge at 1600g for 15 min at 4°C, and collect supernatant 1 (placed in a low-adsorption centrifuge tube).

[0164] 2. After completing step 1, take the supernatant 1, centrifuge at 12000 rpm for 5 min, and collect the supernatant 2 (place it in a low-adsorption centrifuge tube). Supernatant 2 is plasma.

[0165] 3. ...

Embodiment 3

[0222] Example 3. Using the kit prepared in Example 1 to non-invasive prenatally detect whether the fetus has chromosome microdeletion and microduplication syndrome

[0223] The sample to be tested is a peripheral blood sample of a high-risk pregnant woman with Williams-Beuren syndrome detected by SNP Aarray (No. 1), and a peripheral blood sample of a high-risk pregnant woman with Wolf-Hirschhorn syndrome detected by SNP Aarray (No. 2) ), 1 case of clinically tested SNP Aarray as a peripheral blood sample of a high-risk pregnant woman with Smith-Magenis syndrome (No. 3), 1 case of clinically tested SNP Aarray as a peripheral blood sample of a high-risk pregnant woman with Miller-Dieker syndrome (No. 4), 1 case was clinically tested by SNP Aarray as a peripheral blood sample of a high-risk pregnant woman with peroneal muscular atrophy (number 5), 1 case was clinically tested as a peripheral blood sample of a high-risk pregnant woman with 1p36 deletion syndrome by SNP Aarray (number...

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Abstract

The invention discloses a kit for non-invasive prenatal detection of 12 chromosome microdeletion micro-duplex syndromes and a special probe set of the kit. The probe set comprises 600 specific probes.Each specific probe sequentially comprises a DNA fragment 1, a DNA fragment 2 and a DNA fragment 3 from the 5' terminal to the 3' terminal. The nucleotide sequences of the DNA fragments 2 of the 600specific probes are sequentially shown from the 16th position to the 93rd position at the 5' terminal of a sequence 1 of a sequence table to the 16th position to the 93rd position at the 5' terminal of a sequence 600 of the sequence table. Experiments prove that the kit can be used for detecting whether a to-be-detected fetus suffers from the 12 chromosome microdeletion micro-duplex syndromes or not, and detection results are completely consistent with detection results of clinical SNP Aarray. The kit has important application value.

Description

Technical field [0001] The invention belongs to the medical field, and specifically relates to a kit for non-invasive prenatal detection of 12 chromosomal microdeletion and microduplication syndromes and a special probe set thereof. Background technique [0002] Chromosome microdeletion Microduplication syndrome refers to a genetic disease that causes complex clinical manifestations due to chromosomal aberrations that are difficult to find through traditional cytogenetic analysis. It is in addition to chromosomal aneuploidy. Another major category of newborn birth defects. The common clinical manifestations of chromosome microdeletion and microduplication include: abnormal development of certain organs, abnormal growth and development, mental retardation, special facial features, endocrine abnormalities, and changes in mental behavior during fetal development. [0003] Take Digeorge syndrome as an example, which is a chromosomal disease caused by the deletion of the q11.2 segment ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/16C12Q2600/156
Inventor 伍建姬晓雯刘娜王海丽韩路
Owner 北京迈基诺基因科技股份有限公司
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