A pathogenic mutation of hereditary retinitis pigmentosa and its detection reagent

A technology for retinitis pigmentosa and degenerative diseases, which is applied in the field of pathogenic mutations and detection reagents of hereditary retinitis pigmentosa diseases, can solve problems such as no report, difficulty in analyzing small families and sporadic cases, and screening out causative genes.

CN106282197BActive Publication Date: 2019-11-19JIANGSU PROVINCE HOSPITAL +1
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
Publication Date
2019-11-19

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Abstract

The invention discloses a pathogenesis mutation of inherited retinal pigment degeneration disease and a detection reagent thereof, in particular to a mutant SPP2 gene for detecting the inherited retinal degeneration disease. The mutant SPP2 gene is a heterozygous mutant SPP2p.Gly97Arg or SPP2p.Gly29Asp. A kit for detecting inherited progressive cone dystrophy comprises (a) a reagent which is used for detecting physical locations of 234967558 and 234959515 nucleotide sites in SPP2 genes, or a reagent for detecting the 29th or 97th amino acid sites of Spp-24 protein; and (b) description. By virtue of the detection reagent, the pathogenesis mutation of inherited retinal pigment degeneration disease can be obtained; by virtue of detecting the mutation, the inherited retinal degeneration disease can be diagnosed.
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Description

technical field

[0001] The invention belongs to the field of biomedicine, and relates to a pathogenic mutation of hereditary retinitis pigmentosa and a detection reagent thereof. Background technique

[0002] Retinitis pigmentosa (RP) is a group of progressive retinal degenerative diseases caused by genetic defects. The main pathological feature of these diseases is the irreversible apoptosis of photoreceptor cells and retinal pigment epithelium (RPE). The age of onset of RP patients varies greatly among different patients, ranging from a few years old to tens of years old, but the first clinical manifestation is mostly night blindness, accompanied by narrowing of visual field and progressive decline of central vision. Can blind. RP is a common and serious hereditary blinding disease in clinical practice. It is a large group of blinding eye diseases that seriously harm working-age people worldwide. RP has a high incidence in my country and even in the world. my country is ...

Examples

Embodiment 1

[0052] A four-generation family with retinitis pigmentosa (RP) was tested for mutations in the SPP2 gene.

[0053] experimental method:

[0054] 1. Collection of clinical resources of the family and establishment of a genetic resource bank:

[0055] The clinical data and blood samples of each member of the family were collected, see the family diagram figure 1 . Clinical data mainly include personal medical history, family history, best corrected visual acuities (BCVAs), slit lamp examination, fundus photography, color vision examination, visual field examination (Humphrey perimetry), visual evoked potential detection (visual-evokedpotentials); VEP), full field electrophysiology (electroretinography; ERG), fundus fluorescein angiography (FFA) and optical coherence tomography (optical coherence tomography; OCT), etc. The blood genomic DNA of each family member was extracted with a blood genomic DNA extraction kit (Qiagen, Hilden, Germany).

[0056] 2. Discover the pathogeni...

Embodiment 2

[0087] Functional research was carried out on the pathogenic gene detected in Example 1. Here, the new mutation p.Gly97Arg of the SPP2 gene detected above was taken as an example. In addition, on the basis of previous studies, we selected and constructed another highly suspected possible pathogenic mutation of the SPP2 gene, p.Gly29Asp, and our experimental results confirmed that this mutation is similar to p.Gly97Arg mutation in pathogenicity.

[0088] experimental method:

[0089] 1. Conservative analysis:

[0090] Using NCBI HomoloGene database ( http: / / www.ncbi.nlm.nih.gov / homologene ) Conservative evaluation and prediction of the screened mutations in multiple species.

[0091] 2. Predict the pathogenicity of mutations based on SIFT and PROVEN values:

[0092] Using two mainstream online prediction software: SIFT Human Protein DB ( http: / / sift.bii.a- star.edu.sg / ) and PROVEAN (v.1.1.3; http: / / provean.jcvi.org / index.php), predict the impact of missense mutations o...