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

CN109666734APending Publication Date: 2019-04-23SICHUAN PROVINCIAL PEOPLES HOSPITAL
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Patent Information

Authority / Receiving Office
CN · China
Current Assignee / Owner
Publication Date
2019-04-23

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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.
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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 ...

Examples

Embodiment Construction

[0031] Embodiment Kit of the present invention and method of use

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

[0033] 1. PCR amplification reagent (50 people):

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

[0035] Table 1 PCR amplification reagents

[0036] components

concentration

volume

PCR mix

2×

1.2ml

Primer pair

10μM

100μl

pure water

2ml

[0037] The PCR mixture in Table 1 includes Taq enzymes, dNTPs, magnesium ions 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 variation typing detection reagent (50 people):

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

[0042] Table 3 FBN1 gene vari...