Gene chip and kit for detecting rare Mediterranean anemia genes

A technology of thalassemia and gene detection, which is applied in the determination/testing of microorganisms, biochemical equipment and methods, etc., can solve the problems of HbH disease, hydrops fetalis syndrome, etc., achieve high stability, make up for detection limitations, and save money. Effects of laboratory resources

Active Publication Date: 2015-01-28
亚能生物技术(深圳)有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Since most of the gene mutations of non-deletion α-thalassaemia occur in one gene (α2 or α1), it will not damage the function of the other α-gene, so it is generally defined as α + -Thalassemia, heterozygotes generally present as mild or quiescent, but compound alpha 0 Sometimes it can lead to HbH disease, and it can also lead to HbH fetal hydrops syndrome

Method used

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  • Gene chip and kit for detecting rare Mediterranean anemia genes
  • Gene chip and kit for detecting rare Mediterranean anemia genes
  • Gene chip and kit for detecting rare Mediterranean anemia genes

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0029] 1. The chip developed by the present invention is based on the film chip

[0030] The gene chip is composed of a glass sheet or a nylon membrane and a probe array fixed on it. The basic principles of the two are similar. The preparation process of the glass chip is complicated and the detection process is cumbersome. In particular, the signal detection requires a laser scanner, which directly leads to its use. The cost is high, and it cannot be effectively promoted in the market, especially in clinical testing. Therefore, its research and development direction is mainly aimed at scientific research institutions; the development of membrane chips has obvious advantages such as relatively simple preparation, easy operation, and low cost, which is very beneficial to the market. Promotion can realize the industrialization of research results more quickly and effectively.

[0031] 2. Design of the gene chip of the present invention

[0032] According to the DNA chip detecti...

Embodiment 2

[0065] The use effect of embodiment 2 kit of the present invention

[0066] The thalassemia detection reagents currently on the market can detect very limited mutation genotypes, so some mild rare heterozygous mutations are difficult to detect. For example, there are reports in the literature: one of the couples has a rare CD37M (β 0 ) mutation, the other is the common CD41-42M (β 0 ) mutation, the first child was a child with β-thalassemia major (CD37 / CD41-42), who needed continuous blood transfusion once a month, and died at the age of 3. After pregnant with a second child, the hospital was required to make a diagnosis, but using the common thalassemia kit to detect the genotypes of the couple, only one party could be detected as the common CD41-42M, but the other party could not be detected as the rare CD37M. Therefore, the detection of rare thalassemia is an effective method for supplementary detection of patients with suspected symptoms who have not detected common geno...

Embodiment 3

[0089] Embodiment 3 The use of kit of the present invention

[0090] 1. The main components of the kit of the present invention are shown in Table 11.

[0091] Table 11

[0092]

[0093] Other main reagents (boxes) needed

[0094] Whole blood genome extraction reagents are recommended: QIAGEN Whole Blood DNA Extraction Kit or phenol-chloroform reagent.

[0095] 1.1 Storage conditions: Kit I should be stored below -18°C; Kit II should be stored at 2-8°C. If the package is opened and the components are stored separately, in addition to meeting the respective temperature storage conditions, special attention should be paid to TMB should be stored away from light.

[0096] Validity: 6 months

[0097] 1.2 Applicable instruments

[0098] PCR instrument (Heima 9600) molecular hybridization box (FinePCR Combi-H12)

[0099] 1.3 Sample requirements

[0100] The sample source of the kit of the present invention is anticoagulated whole blood, the anticoagulant used is sodium cit...

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Abstract

The invention relates to a gene chip and kit for detecting rare Mediterranean anemia genes. The gene chip for detecting rare Mediterranean anemia genes comprises a substrate and oligonucleotide probes fixed on the substrate, wherein the oligonucleotide probes comprise normal control oligonucleotide probes disclosed as SEQ ID NO:1-2 corresponding to non-deletion alpha-Mediterranean anemia gene, normal control oligonucleotide probes disclosed as SEQ ID NO:3-4 corresponding to point mutant beta-Mediterranean anemia gene, oligonucleotide probes disclosed as SEQ ID NO:5-13 for detecting non-deletion alpha-Mediterranean anemia gene, and oligonucleotide probes disclosed as SEQ ID NO:14-40 for detecting point mutant beta-Mediterranean anemia gene. The gene chip and kit can detect 9 rare non-deletion alpha-Mediterranean anemia genes and 27 rare point mutant beta-Mediterranean anemia genes at one time, and create conditions for more comprehensive screening of point mutant Mediterranean anemia genes.

Description

technical field [0001] The invention relates to a diagnostic device for thalassemia, in particular to a gene chip and a reagent kit for rare thalassemia gene detection. Background technique [0002] Thalassemia (Thalassemia, hereinafter referred to as thalassemia) is due to the decrease in the synthesis rate of one or some globin chains in the patient, resulting in the lack of some peptide chains and the relative excess of other peptide chains, resulting in hemolysis caused by an imbalance in the number of peptide chains sexual anemia. There are two main types of thalassemia, α-thalassemia caused by a deficiency of α-globin chain synthesis and β-thalassemia caused by a deficiency of β-globin synthesis. [0003] α-thalassemia (including deletion α-thalassemia and non-deletion α-thalassemia) is one of the most common monogenic genetic diseases in the world, except for the common deletion α-thalassemia (-α 3.7 , -α 4.2 with-- SEA ), a small part is caused by point mutations...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 曾冰云刘福平刘晶晶任维
Owner 亚能生物技术(深圳)有限公司
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