Kit for screening marfan syndrome

A technology of kits and reagents, applied in the field of SNP, can solve problems such as false negatives and achieve reliable and specific effects

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

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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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  • Kit for screening marfan syndrome
  • Kit for screening marfan syndrome
  • Kit for screening marfan syndrome

Examples

Experimental program
Comparison scheme
Effect test

experiment example

[0057] Experimental example Verification of mutation site

[0058] 1. Method

[0059] Recruit a family with Marfan syndrome, and conduct complete orthopedics, vision, and cardiovascular system examinations for all family members. 4 patients with Marfan syndrome are checked (the family map is shown in figure 1 Shown). In addition, 1086 people without Marfan syndrome were recruited as controls.

[0060] Amplify the FBN1 gene of each member of the aforementioned family and the aforementioned control population, and perform Sanger sequencing.

[0061] 2. Results

[0062] Sequencing results showed that the diseased members of the Marfan syndrome family carried the c.4987T>G heterozygous mutation in turn; while the non-diseased members of the family and the control population did not see any mutations at any of the aforementioned sites. The sequence diagram of normal and mutation sites is as follows figure 2 Shown.

[0063] In summary, the present invention applies the mutation of FBN1 gene...

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Abstract

The invention provides a mutant gene. The mutant gene is characterized in that c.4987T>G mutation appears on the basis of a human FBN1 gene. The invention further provides application of a related reagent for detecting the human FBN1 gene mutation site c.498T>G in preparation of a screening reagent for the marfan syndrome. Mutation of the FBN1 gene site c.498T>G is applied to preparing a marfan syndrome diagnosis assisting kit, and the aim of screening 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 indication, and limb slenderness, is characterized by malnutrition of the surrounding connective tissue, skeletal abnormalities, internal eye diseases and cardiovascular abnormalities , Is a genetic disease with connective tissue as the basic defect. Marfan syndrome was first reported by Marfan (1896) in a 5-year-old girl who had special slender and long limbs. By 1902, Achard called this sign the spider finger. Salle (1921) once dissected a baby with this syndrome and found that there was patent foramen ovale. By 1931, Weve confirmed that this syndrome was a dominant genetic disease and believed that it was caused by abnormal mesoderm tissue development. [0003] Marfan syndrome cannot be cured, only limited relief of specific symptom...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12Q1/6883
CPCC07K14/47C12Q1/6883C12Q2600/156C12Q2600/172
Inventor 曲超龚波王庆伟杨岚
Owner SICHUAN PROVINCIAL PEOPLES HOSPITAL
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