New mutation of PEB (Phosphatidylethanolamine Binding Protein) virulence gene and application thereof

An amino acid and protein technology, applied in the field of biomedicine, can solve the problems of unknown cause, unclear research on pretibial epidermolysis bullosa, unclear relationship between genotype and phenotype, etc.

Active Publication Date: 2013-10-23
BGI GENOMICS CO LTD
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the COL7A1 gene mutation spectrum of PEB disease has not yet been fully discovered, and the relationship between genotype and phenotype is not clear
[0004] Therefore this area is still not clear to the research of pretibial epidermolysis bullosa disease, more unclear to the reason that causes this disease, therefore this area urgently needs to the pathogenic mechanism of pretibial epidermolysis bullosa. Research

Method used

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  • New mutation of PEB (Phosphatidylethanolamine Binding Protein) virulence gene and application thereof
  • New mutation of PEB (Phosphatidylethanolamine Binding Protein) virulence gene and application thereof
  • New mutation of PEB (Phosphatidylethanolamine Binding Protein) virulence gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

preparation example Construction

[0044] The preparation method of DNA library is well known to those skilled in the art, including (but not limited to) steps:

[0045]1. A sample to be detected is provided, the sample contains an interrupted double-stranded nucleic acid fragment derived from genomic DNA, and the nucleic acid fragment has a blunt end;

[0046] 2. Adding an adapter connection sequence at the end of the double-stranded nucleic acid fragment; through the adapter connection sequence, adding an adapter at both ends of the double-stranded nucleic acid fragment, wherein the adapter has a primer binding region and connects a complementary region, the The connecting complementary region is complementary to the adapter connecting sequence; the sequences of the primer binding regions of the adapters at the 3' and 5' ends on both sides are different.

[0047] 3. Amplify the DNA double-stranded nucleic acid fragment with the adapter obtained in the previous step with the first primer and the second primer,...

Embodiment 1

[0077] Embodiment 1 sample acquisition

[0078] The inventor found a four-generation PEB disease family in southern China ( figure 1 A), there are 7 patients (III-2, III-3, III-5, IV-1, IV-2, IV-3, IV-4) in the family, and their clinical manifestations and symptoms are shown in Table 1.

[0079] Table 1

[0080]

[0081] Note: In the item of affected area and skin condition, +++ means severe symptoms, ++ means moderate symptoms, + means mild symptoms, - means negative; in nail dystrophy, nail fusion, hyperhidrosis items, +white means Positive, - means negative; nail dystrophy is only distributed in the left index finger, thumb, middle finger, left index finger and thumb.

[0082] figure 1 A shows the pedigree map of dominant PEB, where ● or ■ indicates affected individuals; S indicates severe patients; Mo indicates patients with moderate symptoms; Mi indicates mild patients.

[0083] figure 1 B shows the clinical presentation of an affected individual with II-2, with s...

Embodiment 2

[0086] Functional Annotation of Example 2 Mutations

[0087] Mutations are annotated and categorized. Because synonymous mutations and non-coding region mutations do not directly affect the sequence of the protein, the main focus is on non-synonymous mutations and splice donor / acceptor site mutations and coding and splice site indels. These mutations were used in the dbSNP database ( http: / / www.ncbi.nlm.nih.gov / projects / SNP / snp_summary.cgi ), Thousand Genomes Database ( www.1000genomes.org / ), 8 HapMap exome databases, YH database ( http: / / yh.genomics.org.cn / ) and other public databases and the mutations of non-diseased individuals in the family gradually filter the results to screen out harmful mutations unique to affected individuals. Meanwhile, to assess the significance of deleterious mutations, they were scored using SIFT for prediction. The SIFT software predicted a score of 0 for this mutation.

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Abstract

The invention relates to a new mutation of a PEB (Phosphatidylethanolamine Binding Protein) virulence gene and an application thereof. Specifically, a COL7A1 new mutation of a PEB virulence gene is found for the first time by virtue of large-scale screening by the inventor. The inventor takes PEB affected pedigree as a research target, performs exome sequencing and comparison on affected individuals and non-affected individuals in the pedigree and accidently finds a missense mutation (G>T) in the 73rd exon of the COL7A1 gene; due to the mutation, glycocoll Gly of the 2034th of the COLA1 protein is mutated as valine Val; the mutation is highly conservative in the patients; and by applying the mutation, the anterior epidenmoiysis bulbse can be detected.

Description

technical field [0001] The invention relates to the field of biomedicine, in particular, the invention relates to a new mutation of a PEB pathogenic gene and its application. Background technique [0002] Pretibial Epidermolysis Bullosa (PEB) is a dominant dystrophic epidermolysis bullosa (DDEB), the main clinical feature of which is the pretibial region of the lower extremities. Itching, red papules and blisters appear, and atrophic scars are formed after the blisters heal, and the nails are dystrophic or fused. In some patients, papular lesions can also be seen on both upper limbs and abdomen. The onset age of PEB is from birth to 60 years old, and the onset of patients in this family is after 5 years old, with an average of 10 years old. The normal age of the control outside the family is 20-40 years old, with an average age of 30 years old. [0003] Studies have found that PEB disease may involve a mutation in the COL7A1 gene that encodes type VII collagen, resulting i...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C07K14/78C12N15/12C12Q1/68G01N33/68
Inventor 苏政张清岩陶锦胜刘彦慧商璇王俊汪建杨焕明
Owner BGI GENOMICS CO LTD
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