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A probe, primer and kit for detecting thalassemia gene mutation

A probe and thalassemia technology, applied in biochemical equipment and methods, microbiological measurement/testing, DNA/RNA fragments, etc., can solve problems that cannot meet the needs of simple and fast clinical diagnosis, high operating requirements, and difficulty in automation , to achieve the effect of reducing the probability of sample contamination, high degree of automation, and comprehensive detection sites

Active Publication Date: 2021-05-18
亚能生物技术(深圳)有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, due to the high operating requirements, cumbersome methods, long time-consuming and difficult automation of these products, they still cannot meet the requirements of simple and fast clinical diagnosis.

Method used

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  • A probe, primer and kit for detecting thalassemia gene mutation
  • A probe, primer and kit for detecting thalassemia gene mutation
  • A probe, primer and kit for detecting thalassemia gene mutation

Examples

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Embodiment

[0103] The kit of this example is used for whole blood genomic DNA in clinical patients with thalassemia, premarital and prenatal screening samples, and can qualitatively detect thalassemia genotypes with a high detection rate in the Chinese population, including 6 deletions type α-thalassaemia (-α 3.7 / , -α 4.2 / , -- SEA / , -- THAI / , -- FIL / , -α 27.6 / ), 7 kinds of non-deletion α-thalassaemia (α CS α / , α QS α / , α WS α / , α 59 α / , α 30 α / , α 31 α / and α 13 α / ) and 23 types of β point mutations (41-42M, 43M, 654M, -28M, -29M, -32M, 71-72M, βEM, 17M, 14-15M, 27 / 28M, CAPM, IntM, IVS- 1-1M, IVS-1-5M, -30M, 31M, -90M, 37M, 38M, 95M, 112M and 19M).

[0104] This example is based on fluorescence asymmetric PCR amplification and melting point analysis.

[0105] Design specific PCR primers to amplify a DNA fragment of a certain length, which contains the deletion genotype to be detected.

[0106]The detection process is to use asymmetric PCR to amplify and enrich the sing...

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Abstract

The present invention relates to a probe for detecting thalassemia gene by fluorescent asymmetric PCR-melting point analysis method, the probe is a double-hybrid probe, and the double-hybrid probe comprises: a double-hybrid probe for detecting deletion type α-thalassemia Needle, which corresponds to the oligonucleotide sequence of SEQ ID No: 1-14; a double-hybrid probe for detecting non-deletion α-thalassaemia, which corresponds to the oligonucleotide sequence of SEQ ID No: 15-26; detects β-thalassaemia A poor double-hybrid probe corresponding to the oligonucleotide sequence of SEQ ID No: 27‑48. The invention also relates to a primer and a kit for detecting the thalassemia gene by the fluorescent asymmetric PCR-melting point analysis method. The invention has the advantages of being able to detect 36 kinds of thalassemia mutation genes at the same time, and compared with similar products, the detection site is more comprehensive, the detection time is shorter, and the efficiency is higher.

Description

technical field [0001] The invention relates to gene detection technology, in particular to a probe, primer and kit for detecting thalassemia gene by using fluorescence asymmetric PCR-melting point analysis method. Background technique [0002] Thalassemia (referred to as "thalassemia") is a heritable hemolytic blood disease caused by a defect in the globin gene, which reduces or fails the synthesis of globin chains, resulting in an imbalance in the ratio of the globin chains that form hemoglobin. There are two main types: α-thalassemia and β-thalassemia. [0003] α-thalassemia, including deletion α-thalassemia and non-deletion α-thalassemia, is one of the most common monogenic genetic diseases in the world. The α-globin gene is located on chromosome 16, and each chromosome 16 has 2 α-globin genes ("α-genes" for short). α-thalassaemia is caused by a peptide chain imbalance caused by a mutation in the α-gene. If one α-gene on the chromosome is deleted or defective, and the...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/686C12Q1/6883C12Q2600/16C12Q2531/107C12Q2563/107C12Q2527/107
Inventor 曲玲刘福平未纪涛李印淑刘晶晶
Owner 亚能生物技术(深圳)有限公司
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