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Kit for detecting senile macular degeneration disease

A technology for degenerative diseases and age-related macular, which is applied in the field of kits for detecting CFH gene variants related to age-related macular degeneration, which can solve problems such as poor effect and difficult vision function, and achieve the effect of reducing visual impairment and improving accuracy.

Inactive Publication Date: 2010-10-13
SICHUAN ACADEMY OF MEDICAL SCI SICHUAN PROVINCIAL PEOPLES HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Once wet AMD develops, the course of the disease is rapid, the effect of conventional treatment is not good, and it is difficult to restore the lost visual function to a large extent

Method used

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  • Kit for detecting senile macular degeneration disease
  • Kit for detecting senile macular degeneration disease
  • Kit for detecting senile macular degeneration disease

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0018] [Example 1] Blood sample collection and specimen processing

[0019] A total of 240 Chinese patients with age-related macular degeneration (AMD) and 250 controls were selected. Patients with clinically confirmed AMD, where 160 A patient with wet AMD, 80 Patients with dry AMD, and the controls were people aged 60 years or older, without drusen and retinal pigment changes, who met the age group of AMD patients.

[0020] For all participants, a detailed investigation of their medical and family histories, and a physical examination and detailed ophthalmology specialist examination were performed. After signing the informed consent form, 5-10 ml of EDTA anticoagulated blood samples were collected from each person. Genomic DNA was extracted by the phenol-chloroform method.

Embodiment 2

[0021] [Example 2] PCR amplification and genotype analysis of DNA fragments containing rs1061170, rs1329428, rs800292, and rs3753394 single nucleotide polymorphisms

[0022] 1. Extract the blood genome DNA of AMD patients and control groups.

[0023] 2. PCR amplification of genomic DNA fragments containing target sequences (rs1061170, rs1329428, rs800292, rs3753394)

[0024] Primer sequence:

[0025] rs1061170: Forward: 5'-TGGTCCTTAGGAAAATGT-3'

[0026] Reverse: 5'-GCTTTTGGAAGAGCGTAG-3'

[0027] rs1329428: Forward: 5'-GGCTCACCCCAGTGATACAT-3'

[0028] Reverse: 5'-AACAGGGGAGCTGCATTTTA-3'

[0029] rs800292: Forward: 5'-CCATTCTCCCCTTCCTGCATA-3';

[0030] Reverse: 5'-GATTGCAATGAACTTCCTCCA-3'

[0031] rs3753394: Forward: 5'-CCCCAAATTCATCAAGCACT-3';

[0032] Reverse: 5'-TAGGGAAATTCTCCGTTGGA-3'

[0033] Reaction conditions:

[0034]rs1061170: 95℃3minutes, (94℃30seconds, 50℃30seconds, 72℃45seconds)*35cycles 72℃10minutes 4℃forever

[0035] rs1329428: 95℃3minutes, (94℃30seconds...

Embodiment 3

[0090] [Example 3] The correlation analysis results of CFH gene single nucleotide polymorphism and AMD

[0091] The chi-square test was used to analyze the allelic correlation, and the odds ratio and 95% confidence interval were calculated at the same time to evaluate the relationship between the risk allele and the risk of disease (OR value). Bases with "*" in the table are risk genes.

[0092]

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Abstract

The invention provides a kit for detecting senile macular degeneration disease, comprising a related reagent selected freely from rs1061170 variation of exon 9, rs1329428 variation of intron 15, rs800292 variation of exon 2 used for detecting CFH gene and / or rs3753394 variation in a 5' non-coding region used for AMD screening diagnosis. By detecting whether the above locus has variation or not, the kit can detect that risk of senile macular degeneration disease has high association with AMD, and can be used for monitoring and detecting AMD high risk group at an early stage so as to implement early-stage prevention and curing and reduce vision damage to AMD high risk group.

Description

technical field [0001] The invention relates to a kit for detecting age-related macular degeneration, in particular a kit for detecting CFH gene variation related to age-related macular degeneration. Background technique [0002] Macular degeneration is considered to be a heterogeneous disease characterized by progressive central vision loss and macular retinal pigment epithelial degeneration, and is an important blinding eye disease. Macular degeneration includes age-related macular degeneration and macular dystrophy (stargart disease, best disease, sorsby fundus dystrophy, etc.). Age-related macular degeneration (AMD) has become one of the most important blinding eye diseases for the elderly, with 10 million patients worldwide, and the prevalence of AMD among people aged 60-69 in my country is 7.77%. Over the age of up to 15.33%. Currently there is no effective treatment for AMD, the main reason is that the pathogenesis is still unclear. [0003] In recent years, studies...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
Inventor 杨正林刘小琦鲁芳
Owner SICHUAN ACADEMY OF MEDICAL SCI SICHUAN PROVINCIAL PEOPLES HOSPITAL
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