Multi-site screening kit for Marfan syndrome

A kit and reagent technology, applied in the field of SNP, can solve problems such as false negatives, and achieve reliable specificity and broad prospects

Pending Publication Date: 2019-04-23
SICHUAN PROVINCIAL PEOPLES HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, not all mutations in any of the aforementioned genes are associated with Marfan syndrome; the diagno

Method used

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  • Multi-site screening kit for Marfan syndrome
  • Multi-site screening kit for Marfan syndrome
  • Multi-site screening kit for Marfan syndrome

Examples

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Example Embodiment

[0031] Example The kit and method of use of the present invention

[0032] All components, contents and methods of use in the kit of the present invention are as follows:

[0033] 1. PCR amplification reagents (50 servings):

[0034] The PCR amplification reagent is used to amplify a piece of DNA sequence where the SNP site is located, and its composition is shown in Table 1.

[0035] Table 1 PCR amplification reagents

[0036] Component

[0037] The PCR mixture in Table 1 includes Taq enzyme, dNTP, magnesium ion and other components required for conventional PCR; the primer pair information is shown in Table 2.

[0038] Table 2 Primers used for FBN1 gene amplification

[0039]

[0040] 2. FBN1 gene mutation typing detection reagent (50 persons):

[0041] The reagent includes the components shown in Table 3.

[0042] Table 3 FBN1 gene variant typing detection reagents

[0043] Component

[0044] The F primer is a primer used for sequencing, and its sequence is close to the SNP site and...

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Abstract

The invention provides a mutant gene. The mutant gene is characterized in that the mutant gene is obtained through at least one mutation type of the following eight types comprising c. 4987T>G, c. 3617G>A, c. 5032T>G, c. 4087G>A, c. 4588C>T, c. 2861G>T, c. 718C>T and c. 4460A>G based on a human FBN1 gene. The invention further provides application of a related reagent used for detecting the mutation sites of the c. 4987T>G, the c. 3617G>A, the c. 5032T>G, the c. 4087G>A, the c. 4588C>T, the c. 2861G>T, c. 718C>T and/or the c. 4460A>G of the human FBN1 gene in preparation of a screening reagentfor the Marfan syndrome. The mutation of the sites of the c. 4987T>G, the c. 3617G>A, the c. 5032T>G, the c. 4087G>A, the c. 4588C>T, the c. 2861G>T, c. 718C>T and/or the c. 4460A>G of the human FBN1gene is applied to preparation of the auxiliary diagnostic kit for the Marfan syndrome, and the screening purpose can be achieved.

Description

technical field [0001] The present invention relates to the field of SNPs, in particular to SNPs related to Marfan syndrome. Background technique [0002] Marfan syndrome, also known as congenital mesodermal dysplasia, Marchesani syndrome, spider sign, elongated limbs, is characterized by peripheral connective tissue dystrophy, skeletal abnormalities, internal eye disease, and cardiovascular abnormalities , is a genetic disorder in which the basic defect of connective tissue is present. Marfan syndrome was first reported by Marfan (1896) in a 5-year-old girl with exceptionally slender and long limbs. By 1902, Achard called this sign spider fingers. Salle (1921) had dissected a baby with this syndrome and found a patent foramen ovale. By 1931, Weve confirmed that the syndrome was a dominant genetic disease and believed that it was caused by abnormal development of mesoderm tissue. [0003] There is no cure for Marfan syndrome, and only limited relief of specific symptoms ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 龚波郭小新曲超杨岚
Owner SICHUAN PROVINCIAL PEOPLES HOSPITAL
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