A retinitis pigmentosa screening kit

Abstract

The invention provides a mutant gene, which is characterized in that: it has c.1997 T>A and / or c.2426 A>C mutation on the basis of human CRB1 gene. The present invention also provides the use of the relevant reagents for detecting human CRB1 gene mutation sites c.1997 T>A and / or c.2426 A>C in the preparation of screening reagents for retinitis pigmentosa. The invention applies the variation of the c.1997 T>A and / or c.2426 A>C site of the CRB1 gene to the preparation of an auxiliary diagnosis kit for retinitis pigmentosa, which can achieve the purpose of screening.

Description

technical field

[0001] The present invention relates to the field of gene point mutation, in particular to the point mutation related to retinitis pigmentosa. Background technique

[0002] Retinitis pigmentosa (RP) is a progressive, hereditary, dystrophic degenerative disease, mainly manifested as chronic progressive visual field loss, night blindness, retinopathy pigmentosa and abnormal electroretinogram, which can eventually lead to vision loss and even blindness .

[0003] There are three types of inheritance of RP: autosomal recessive, dominant and X-linked recessive, of which autosomal recessive is the most inherited. Prenatal diagnosis is of great significance for the prevention of autosomal recessive RP.

[0004] However, the currently known RP pathogenic related mutation sites are not yet complete, and the kits developed based on the known mutation sites may lead to missed diagnosis of RP. SUMMARY OF THE INVENTION

[0005] The technical problem to be solved by t...

Examples

Embodiment

[0025] Example Kit of the present invention and method of use

[0026] All components, contents and use methods in the kit of the present invention are as follows:

[0027] 1. PCR amplification reagents (50 copies):

[0028] The PCR amplification reagent is used to amplify a DNA sequence where the mutation site is located, and its composition is shown in Table 1.

[0029] Table 1 PCR amplification reagents

[0030] component concentration volume PCR mix 2× 600μl primer pair 10μM 100μl pure water 2ml

[0031] The PCR mixture in Table 1 includes Taq enzyme, dNTP, magnesium ions and other components required for conventional PCR; the primer pair information is shown in Table 2.

[0032] Table 2 Primers used for CRB1 gene amplification

[0033]

[0034] 2. CRB1 gene variant typing detection reagent (50 copies):

[0035] The reagent included the components shown in Table 3.

[0036] Table 3 Detection reagents for CRB1 gene variant...

technical field

[0001] The present invention relates to the field of gene point mutation, in particular to the point mutation related to retinitis pigmentosa. Background technique

[0002] Retinitis pigmentosa (RP) is a progressive, hereditary, dystrophic degenerative disease, mainly manifested as chronic progressive visual field loss, night blindness, retinopathy pigmentosa and abnormal electroretinogram, which can eventually lead to vision loss and even blindness .

[0003] There are three types of inheritance of RP: autosomal recessive, dominant and X-linked recessive, of which autosomal recessive is the most inherited. Prenatal diagnosis is of great significance for the prevention of autosomal recessive RP.

[0004] However, the currently known RP pathogenic related mutation sites are not yet complete, and the kits developed based on the known mutation sites may lead to missed diagnosis of RP. SUMMARY OF THE INVENTION

[0005] The technical problem to be solved by t...

Examples

Embodiment

[0025] Example Kit of the present invention and method of use

[0026] All components, contents and use methods in the kit of the present invention are as follows:

[0027] 1. PCR amplification reagents (50 copies):

[0028] The PCR amplification reagent is used to amplify a DNA sequence where the mutation site is located, and its composition is shown in Table 1.

[0029] Table 1 PCR amplification reagents

[0030] component concentration volume PCR mix 2× 600μl primer pair 10μM 100μl pure water 2ml

[0031] The PCR mixture in Table 1 includes Taq enzyme, dNTP, magnesium ions and other components required for conventional PCR; the primer pair information is shown in Table 2.

[0032] Table 2 Primers used for CRB1 gene amplification

[0033]

[0034] 2. CRB1 gene variant typing detection reagent (50 copies):

[0035] The reagent included the components shown in Table 3.

[0036] Table 3 Detection reagents for CRB1 gene variant...

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