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Method and kit for detecting gck-mody gene mutation

A gene and single gene technology, applied in the field of gene detection, can solve the problems of difficult promotion of gene detection and high detection cost

Active Publication Date: 2021-10-29
BIOISLAND LAB +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0009] When the method for determining the number of mixed DNA samples is applied to the detection of GCK-MODY patients in diabetes and natural populations, it is found that the detection cost can be reduced to less than 100 yuan, or even less than 50 yuan, so that large-scale population screening can be realized The survey benefits more people, especially pregnant women, and solves the problem of difficult promotion of genetic testing due to high testing costs

Method used

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  • Method and kit for detecting gck-mody gene mutation
  • Method and kit for detecting gck-mody gene mutation
  • Method and kit for detecting gck-mody gene mutation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0157] Embodiment 1 utilizes the primer set of table 1 to carry out PCR amplification

[0158] The DNA from 6 cases of blood and 6 cases of saliva samples were respectively used to amplify and sequence using the primer sets in Table 1. The specific specificity results are shown in Table 7, wherein the average specificities of blood samples and saliva samples are respectively 92.21% and 91.25%.

[0159] Table 7: Amplification System Specificity

[0160] sample number blood sample sample number saliva sample A01 0.926421247 A07 0.925325711 A02 0.921028152 A08 0.909607595 A03 0.919981356 A09 0.915062707 A04 0.931412141 A10 0.895322696 A05 0.918928511 A11 0.90819824 A06 0.915019602 A12 0.921748681

[0161] Tables 8 and 9 below show the degree of amplification equilibrium, which is characterized by the number of reads amplified by each amplicon. In 6 blood samples and 6 saliva samples, the number of reads amplified by ...

Embodiment 2

[0172] Embodiment 2 utilizes the primer set of table 2 to carry out PCR amplification

[0173] The DNA of 10 diabetic patients was respectively used, and the primer sets in Table 2 were used to amplify, build a library, and sequence the DNA of 10 samples. For the specificity of each sample, see Table 11 below. The average specificity of the 10 samples The sex is 0.9.

[0174] Table 11: Amplification System Specificity

[0175] sample number 501 502 503 504 505 506 507 508 509 510 specificity 0.90 0.90 0.90 0.89 0.91 0.90 0.87 0.91 0.92 0.91

[0176] Table 12 below shows the degree of amplification equilibrium, which is characterized by the number of reads amplified by each amplicon. In the 10 samples, the number of reads amplified by each amplicon and the average value are shown in Table 12 below:

[0177] Table 12: Amplification Balance

[0178]

[0179]

[0180] The analysis of 10 samples proves that the amplification system h...

Embodiment 3

[0186] Example 3 DNA pooling method

[0187] Calculation of the number of samples (pool size) that should be mixed in each mixed sample:

[0188] According to the principle of cost minimization, the number of samples that should be mixed in each mixed sample corresponds to an optimal scheme according to the prevalence rate. Assuming that the cost of each genetic test is M, the incidence of diabetes in the population is a%, and there are n individuals in each mixed sample, including N diabetic patients, the total cost ranges from NM / n+N*a Between %*M~NM / n+N*a%*n*M. The lowest-cost hybrid solution should meet the following criteria:

[0189] NM / n+N*a%*n*M

[0190] NM / n+nNM*a%

[0191] According to this mathematical model, the optimal mixed scheme corresponding to different prevalence rates is obtained as follows: Figure 5 shown, based on Figure 5 The calculation formula shown below is obtained:

[0192] -1 / 2+sqrt(1 / 4+1 / a%)

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Abstract

The present invention provides a method for determining the number of mixed DNA samples (DNA pooling) in the genetic detection of monogenic genetic diseases in the population, which can be applied to the efficient analysis of a large number of samples, and can significantly reduce the cost of genetic detection of monogenic genetic diseases in the population . In combination with the primer set provided by the present invention, the GCK-MODY sequencing of a large number of samples and the detection of GCK gene mutations can be realized.

Description

technical field [0001] The invention belongs to the field of gene detection, in particular to the detection of genes related to diseases. Background technique [0002] A single gene genetic disease is a genetic disease caused by a single gene variation and is controlled by a pair of alleles. Many known genetic diseases are single-gene diseases, such as hemophilia, color blindness, polydactyly, syndactyly, phenylketonuria and so on. Genetic diseases generally plague life and are difficult to treat. Even if some can be treated, the cost is very expensive. More importantly, patients may inherit the mutated gene to the next generation. Single-gene genetic disorders usually have a lower incidence. [0003] Parents of children with recessive monogenic genetic diseases often have no symptoms, and it is difficult to detect them in routine prenatal checkups. The disease is not discovered until after the child is born. For example, if both husband and wife carry out carrier screeni...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6858C12N15/11
CPCC12Q1/6858C12Q2531/113C12Q2537/143C12Q2535/122
Inventor 徐涛周凯欣黄蓉赵晶刘子青郑丽
Owner BIOISLAND LAB
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