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Nucleic acid composition, detection kit and method of use for detection of hereditary anemia

A technology for detection kits and nucleic acid compositions, applied in the fields of molecular biology and biomedicine, can solve problems such as unreasonable primer design, high homology, and limited detection throughput, so as to reduce the risk of missed detection of hereditary anemia and improve Accuracy and reliability, the effect of ensuring the quality of the amplification

Active Publication Date: 2022-04-05
BEIHAO STEM CELL & REGENERATIVE MEDICINE RES INST CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0008] At present, most of the detection methods or kit products are for the detection of thalassemia, and the detection throughput is limited. There are no clinical detection products and methods for sickle cell anemia gene detection in China.
In addition, in the southern coastal areas of my country, especially the Guangdong and Guangxi regions, thalassemia caused by THAI deficiency also occurs from time to time due to exchanges and intermarriage with Vietnam and Thailand, but there are currently no detection products and methods for this type of thalassemia
In addition, the α-globin gene cluster has high GC content and high homology, and PCR amplification is difficult. The existing detection kits generally have the problems of unreasonable primer design and poor detection probe accuracy, which has caused a lot of trouble for the result judgment. Not conducive to promotion in scientific research or clinical application

Method used

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  • Nucleic acid composition, detection kit and method of use for detection of hereditary anemia
  • Nucleic acid composition, detection kit and method of use for detection of hereditary anemia
  • Nucleic acid composition, detection kit and method of use for detection of hereditary anemia

Examples

Experimental program
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Effect test

Embodiment 1

[0107] Using the hereditary anemia detection kit of the present invention and the method for using the above kit, detection and verification are performed on normal people and several clinical samples. Normal samples were from volunteers of the applicant unit, and clinical samples were from Foshan Maternal and Child Health Hospital (all samples were approved by the Ethics Committee of Foshan Maternal and Child Health Hospital, and the patient’s informed consent was obtained), and the sequencing method, etc. Identified as 41 / 42M / N, sickle cell anemia heterozygous, alpha WS α, -α 4.2 / αα and -α SEA / αα type of anemia. Figure 3 to Figure 8 Normal people, 41 / 42M / N, sickle cell anemia heterozygotes, α WS α, -α 4.2 / αα and -α SEA The test results of / αα can be seen from the figure, all the test results are consistent with the original identification results.

Embodiment 2

[0108] Example 2: Genome conditions and detection conditions extracted from samples from different sources

[0109] In order to analyze samples from different sources, such as samples from peripheral blood, saliva, urine, and blood film, use the corresponding genome extraction kit to extract the concentration, purity, and detection of genomic DNA. In this example, 5 volunteers were collected. Samples from different sources were compared. The genome extraction kits used are:

[0110] Whole blood genome extraction kit: use CWBIO's Blood Genomic DNA Midi Kit (1-5ml) (Cat. No. CW0541S);

[0111] Saliva DNA extraction kit: use EMI's BIOG saliva DNA extraction kit (Cat. No. 51043);

[0112] Urine DNA Extraction Kit: Use EMI’s BIOG Urine DNA Extraction Kit (Cat. No. 51045);

[0113] Blood film DNA extraction kit: use CWBIO's FTAcard DNA Kit (Cat. No. CW2275S).

[0114] The extracted genomic DNA is shown in Table 11 below (all DNA was dissolved in 50 μl ultrapure water).

[0115]...

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Abstract

The invention relates to a nucleic acid composition for detecting hereditary anemia, a detection kit and a use method thereof. The nucleic acid composition and detection kit for the detection of hereditary anemia can be used for the simultaneous detection of 4 deletion-type α-thalassemia genes, 3 non-deletion-type α-thalassemia genes, 19 mutant-type β-thalassemia genes, and sickle-shaped anemia Genetics such as anemia and specific types of genetic mutations. Compared with the existing similar technologies, the hereditary anemia detection kit has added several mutation detection types of hereditary anemia, such as α THAI Deletion thalassemia, sickle cell anemia, and two less common types of beta-thalassemia, the 71 / 72(+T) mutation and the ‑28M(A‑C) mutation. The increased detection of these types of hereditary anemia can provide intuitive reference and prompts for clinical detection of hereditary anemia, thus greatly reducing the risk of missed detection of clinical hereditary anemia and reducing the birth rate of children with severe anemia.

Description

technical field [0001] The invention relates to the technical fields of molecular biology and biomedicine, in particular to a nucleic acid composition for detection of hereditary anemia, a detection kit and a use method thereof. Background technique [0002] Hereditary anemia is a kind of anemic hemolysis caused by hereditary or genetic mutations that lead to changes in the structure or synthesis rate of the globin peptide chains that produce hemoglobin, resulting in abnormal functions, mainly including abnormal hemoglobin disorders and globin synthesis disorders anemia. Sickle cell anemia is the most important abnormal hemoglobin disease, which is anemia caused by gene mutations that lead to globin structural changes; thalassemia is the most important globin anemia, which is caused by gene mutations that lead to globin peptide chain synthesis Anemia caused by deficiency or abnormal synthesis. There are two main types of thalassemia, α-thalassemia caused by a deficiency of...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6834C12Q1/6827C12Q1/6883C12N15/11
CPCC12Q1/6827C12Q1/6834C12Q1/6883C12Q2531/113
Inventor 吴海涛沈政聂慧蓉施念吴灵
Owner BEIHAO STEM CELL & REGENERATIVE MEDICINE RES INST CO LTD
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