Single-gene genetic disease expansible carrier screening method and chip

A genetic disease, scalable technology, applied in the field of biological genetics, can solve problems such as deficiency

Pending Publication Date: 2021-11-23
武汉良培医学检验实验室有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0007] The technical problem to be solved by the present invention is to provide a method for screening extended carriers of monogenic genetic diseases and a chip to overcome the lack of a method for evaluating disease inclusion criteria for East Asian populations in the prior art

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  • Single-gene genetic disease expansible carrier screening method and chip
  • Single-gene genetic disease expansible carrier screening method and chip
  • Single-gene genetic disease expansible carrier screening method and chip

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Embodiment 1

[0048] (1) Screening strategies for genetic disease-causing genes

[0049] Carrier rates of pathogenic mutations in all genetic disease genes were estimated from the Variation and Disease Phenotype Database (ClinVar) and the Genome Mutation Frequency Database (gnomAD).

[0050] The main steps for calculating the carrier rate of pathogenic mutations are as follows: First, obtain the mutation information marked as likely pathogenic or pathogenic in the ClinVar database (https: / / www.ncbi.nlm.nih.gov / clinvar / ). Then, the above mutations were annotated using the mutation frequencies in males and females in the gnomAD v2.1.1 (https: / / gnomad.broadinstitute.org / ) East Asian population database. In the process of annotation, the individual count (Allele Count), the total individual count of the locus (Allele Number) and the number of homozygous individuals (Number of Homozygotes) can be obtained for each pathogenic or suspected pathogenic mutation.

[0051] First calculate the carrier...

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Abstract

The invention discloses a single-gene genetic disease expansible carrier screening method and a chip. The screening method comprises the following steps: (1) estimating pathogenic mutation carrying rates of all genetic disease genes; (2) calculating the carrying rate (GCR) of a corresponding gene based on the pathogenic mutation carrying rate obtained in the step (1); and (3) calculating a gene screening grade score (GSR) based on the GCR obtained in the step (2). A variation and disease phenotype database, a gnomAD East Asian population frequency database and a large-scale Chinese female population variation frequency database are integrated to respectively calculate screening grade scores of genes of East Asian male, East Asian female and Chinese female. The method can be used as an autosomal and sex chromosome recessive genetic disease screening strategy to construct an expansible carrier screening disease list suitable for the genetic background of East Asian people or Chinese female people.

Description

technical field [0001] The invention belongs to the field of biological heredity, and in particular relates to a method for screening extended carriers of single-gene genetic diseases and a chip, in particular to a method for screening extended carriers of single-gene inherited diseases in East Asian and Chinese populations. Background technique [0002] Monogenic genetic diseases refer to genetic diseases controlled by a pair of alleles, such as hereditary deafness, progressive pseudohypertrophic muscular dystrophy, spinal muscular atrophy, thalassemia, etc. There are many types of single-gene genetic diseases, more than 8,000 kinds have been discovered so far, and the combined incidence rate is as high as 1 / 100. Overall, monogenic disorders are an important cause of infant mortality and hospitalization of children [1,2]. Most monogenic genetic diseases cause serious damage to human health (death, disability or teratogenicity), but there is a lack of effective means of dia...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B50/00G16B20/50C12Q1/6883
CPCG16B50/00G16B20/50C12Q1/6883C12Q2600/156
Inventor 毛良伟柯雅娟姚辉卢飞吴丰盛谭刚项慰吴超男周媛杨帆袁林玲
Owner 武汉良培医学检验实验室有限公司
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