Retinitis pigmentosa mutant site and application thereof

Abstract

The invention relates to a retinitis pigmentosa mutant site and an application thereof. The retinitis pigmentosa mutant site is based on clinical resources, through a gene capture chip and a deep sequencing technique, through genetics, clinical manifestation and crowd verification are used for combination, the situation that detected 35 mutant sites are retinitis pigmentosa new infective sites is successfully confirmed, a new molecular biology base is provided for disease diagnosis, and a retinitis pigmentosa diagnosis reagent kit can be developed based on the 35 mutant sites.

Description

technical field [0001] The invention belongs to the field of disease diagnosis and gene detection, and specifically relates to 35 retinitis pigmentosa mutation sites and applications thereof. Background technique [0002] Retinitis pigmentosa (RP) is a group of progressive and blinding hereditary fundus diseases characterized by damage to retinal photoreceptors (rods and cones) and pigment epithelium. The incidence rate of RP in the world is 1 / 3000-1 / 5000, and the incidence rate of the Chinese population can be as high as 1 / 1000. The main clinical features of the disease are: progressive visual field defect, night blindness, retinal bone cell-like pigmentation and abnormal electroretinogram. The age of onset varies from birth to old age. About 20%-30% of RP patients have extraocular symptoms including hearing loss, obesity, polydactyly, and neurological lesions. These extraocular abnormalities are easily overlooked or confused. Furthermore, the clinical presentation of R...

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Problems solved by technology

However, like all medical interventions, genetic testing has some specific risks

For example, a problem often encountered in the current detection process is the judgment of pathogenicity of multiple mutation sites. Even though there are strict pathogenicity judgment standards, such as the ACMG standard of the American Medical Genetics Association, they are limited by various factors (such as : Incomplete family information, unreported loci, gene heterogeneity, etc.), the pathogenicity of most loci still cannot be clarified in clinical work

For example, a false positive result from a genetic test can affect a patient's family planning, create feelings of anxiety or guilt, and can even disrupt a patient's relationships with other family members

False negative results of genetic testing delay the diagnosis and treatment of patients, increase the birth rate of patients, etc.

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