Pathogenic gene locus database and establishment method thereof

Abstract

The invention relates to a pathogenic gene locus database and an establishment method thereof, and belongs to the technical field of disease gene detection. The establishment method of the pathogenicgene locus database comprises the following steps: acquiring clinically verified pathogenic gene locus data information as reference data; acquiring gene loci causing pathogenicity due to amino acid change in the reference data, and expanding codons of amino acids at the loci; acquiring gene loci causing pathogenicity due to splicing locus change in the reference data, and expanding other mutationforms of the loci; and screening the data, removing loci of which the population mutation occurrence frequency is higher than a predetermined threshold value, remaining high-risk pathogenic mutationloci and high-risk pathogenic shearing loci, and combining the remaining high-risk pathogenic mutation loci and high-risk pathogenic shearing loci with the reference data to form the pathogenic gene locus database. The database records a large number of site records with high pathogenic risk, the possibility of omission can be reduced, and the accuracy and efficiency of clinical interpretation work are greatly improved.

Description

technical field [0001] The invention relates to the technical field of disease gene detection, in particular to a disease-causing gene locus database and a method for establishing the same. Background technique [0002] Gene mutations are divided into polymorphism and pathogenicity. There are about 4 million mutations in each person's genome, most of which are normal non-pathogenic sites, namely polymorphic sites, while pathogenic sites It needs to go through complex process verification, which is a long-term accumulation process. [0003] At present, there are many databases that include pathogenic loci, such as HGMD, ClinVar, etc., but these databases include mutations that have actually occurred, that is, mutations supported by real sample cases, which are obtained after comparison with clinical symptoms and verification. That is, most of the sites included in the database are relatively common sites. [0004] In practice, uncommon loci are difficult to collect enough s...

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Problems solved by technology

[0004] In practice, uncommon loci are difficult to collect enough samples for pathogenicity research, so they are not included in the database, but due to the diversity of gene mutations and disease symptoms (the same gene Different mutations may cause different symptoms) and heterogeneity (a symptom may be caused by multiple different gene mutations), the proportion of disease-causing sites that have been discovered so far is very low, that is, the significance of many mutations is unknown, Although these individual rare loci are relatively rare, their total number is large

[0005] And these unverified data have played a very important role in prompting the detection of pathogenic gene mutations. If we only rely on the common sites included in the database for genetic testing, many meaningful sites will be ignored. The impact on the compound heterozygous disease-causing gene is very large, which greatly increases the difficulty of detection and reduces the diagnostic efficiency

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