Evaluation method for judging rare hereditary diseases

A genetic disease and rare technology, applied in the fields of medical data mining, instrumentation, genomics, etc., can solve the problems of increasing the clinical significance of analyzing variation, lack of reference data of Chinese population in the shared population database, and low probability of judgment and evaluation. Achieve the effect of helping early judgment and treatment, reducing disability and fatality rates, and reducing economic burden

Pending Publication Date: 2021-04-30
PEOPLES HOSPITAL OF HENAN PROV
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Problems solved by technology

[0006] At the current stage, the judgment cycle of genetic diseases is long, and the probability of judgment and evaluation is low. In addition, our understanding of the pathogenic mechanism of disease genes is not sufficient. The

Method used

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  • Evaluation method for judging rare hereditary diseases
  • Evaluation method for judging rare hereditary diseases
  • Evaluation method for judging rare hereditary diseases

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Experimental program
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Embodiment

[0028] In this embodiment, a total of 45 core families of neurodevelopmental disorders that cannot be judged by traditional detection methods were collected (PED (pedigree) files in units of families are shown in Table 1).

[0029] Table 1 Data Collection Form

[0030]

[0031] In-depth phenotypic normalization of 45 core families with neurodevelopmental disorders of unexplained origin. First get the Chinese phenotype description from the clinical history, then use the Chinese HPO database (http: / / www.chinahpo.org / ) to query and match, get the HPO number, and then get the phenotype corresponding to the ontology from the HPO database name and the system to which it belongs. We abbreviated it independently for the convenience of subsequent analysis. The phenotype information of all family members was collected, and the phenotype was standardized based on the human phenotype ontology system. The results are shown in Table 2.

[0032] Table 2 Statistical table of phenotype s...

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Abstract

The invention discloses an evaluation method for judging rare hereditary diseases, which comprises the steps of deep phenotype analysis, whole exon group sequencing, gene mutation identification and filtration, mutation optimization combined with a genetic pattern and a disease phenotype, whole exon group sequencing and human phenotype ontology. Clinical doctors can be assisted to judge and evaluate pathogenic factors of rare hereditary diseases in time, the evaluable rate of the rare hereditary diseases is increased, a basis is provided for determining appropriate treatment measures and clinical management strategies, genetic counseling and prenatal evaluation are provided for families, birth of similar child patients is reduced, and economic burdens of the families and the society are relieved. Therefore, the method has important significance for judging the hereditary diseases with high phenotypic heterogeneity and low morbidity.

Description

technical field [0001] The invention belongs to the field of judgment and evaluation of genetic diseases and pathogenic genes, and in particular relates to an evaluation method for judging rare genetic diseases with unknown causes. Background technique [0002] At present, the pathogenesis and genetic mechanism of about 4,600 difficult and rare diseases are relatively clear in world medicine, but more than 50% of patients with rare genetic diseases have not been clearly diagnosed. Compared with common diseases, the level of research on rare and intractable diseases is obviously lagging behind. Due to the limited understanding of the pathogenesis of difficult and rare diseases, the methods of diagnosis and treatment are insufficient. Traditionally, clinical laboratory judgment assessment techniques for rare genetic disorders of unknown cause have included neuroimaging, metabolic screening, genetic testing (eg, karyotype, chromosomal microarray analysis), extraclinical Exome...

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Application Information

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IPC IPC(8): G16H50/70G16B20/40G16B20/50G16B30/00
CPCG16H50/70G16B20/40G16B20/50G16B30/00
Inventor 唐霞丁克越王青青廖世秀
Owner PEOPLES HOSPITAL OF HENAN PROV
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