Method for confirming family-specific genetic disease-associated allelic haplotype variant signatures

An allele and haplotype technology, applied in the fields of genetics and molecular biology, can solve the problem of no unified standardization method, and achieve the effect of easy operation and understanding, low sequencing cost, and saving detection cost.

Inactive Publication Date: 2018-04-13
苏州鑫卓信生物科技有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

So far, although some cases of point mutations associated with certain diseases have been reported and can be used for corresponding PGD and PD diagnosis, personalized PGD labels for different diseases or even the same symptom disease in different families have never appeared. standardized method

Method used

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  • Method for confirming family-specific genetic disease-associated allelic haplotype variant signatures
  • Method for confirming family-specific genetic disease-associated allelic haplotype variant signatures
  • Method for confirming family-specific genetic disease-associated allelic haplotype variant signatures

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0038] For a method for confirming the allelic haplotype variant signature associated with Hereditary Multiple Exostoses in a family, see figure 1 , including the following steps,

[0039] 1) Select 5 people from the Mendelian genetic disease family to extract genomic DNA samples. Select 5 family members, member A is about to give birth and suffers from a family Mendelian genetic disease; member B is the father of member A; member C is the mother of member A; member D is the cousin of member A, and is the disease family The positive control of member E; member E is the cousin of member A, and is the negative control of the disease family. Among them, member D and member E were from paternal family members at risk of disease. Collect 5ml of peripheral venous blood from the above-mentioned 5 members respectively, and use TaKaRaMiniBEST Whole Blood DNA Extraction Kit to extract DNA. For details, please refer to the operation manual of the kit. Five members extracted genomic DN...

Embodiment 2

[0055] Search allelic haplotype variation tags found in Example 1, confirm the records, and translate the DNA into protein. If the amino acid sequence of the protein changes, it will help to further confirm the variation of the allele at this site. Reliability of disease associations. We further conducted a literature survey on the deletion mutation and found that the deletion mutation had been recorded in the literature (Seki H, Kubota T, Ikegawa S, Haga N, Fujioka F, Ohzeki S, etal. Mutation frequencies of EXT1 and EXT2in43 Japanese families with hereditary multiple exostoses. American journal of medical genetics. 2001;99(1):59-62. Epub2001 / 02 / 15. PubMed PMID: 11170095.). Thus, it was determined that the deletion variant could be used as a confirmatory allelic haplotype signature. If there is no literature record after searching, it means that the variant site has not been found yet, and it belongs to a new family genetic variation label, which is worthy of further research...

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Abstract

The invention provides a method for confirming the haplotype variation tags of family-specific genetic diseases associated alleles. Extract genomic DNA from at least 5 people in the family of Mendelian genetic diseases; obtain target gene information related to the disease; amplify and sequence the DNA fragments in the target gene interval in each genomic DNA; select each genomic DNA separately All variant sites that exist in the target gene interval; obtain the genotype of each variant site in each genomic DNA; genetic analysis of the variant site in each genomic DNA combined with disease traits to confirm the disease association Allelic haplotype variant labels for . The present invention adopts the way of PCR amplicon sequencing only for specific disease-associated gene exons, the target area is small, the sequencing cost is low, the implementation period is short, and the result is reliable. It can be applied to preimplantation genetic diagnosis (PGD) of IVF or fetal diagnosis (PD) during pregnancy.

Description

technical field [0001] The invention belongs to genetics and molecular biology, in particular to a method for confirming family-specific genetic disease-associated allele haplotype variation tags. Background technique [0002] Preimplantation Genetic Diagnosis (PGD) is a general term for a method used to determine whether an embryo to be implanted in a test-tube baby has a disease risk or carries a disease allele. Fetal diagnosis of PD during pregnancy is a collective term for judging whether the fetus after pregnancy has a disease risk or carries a disease allele. With the emergence of cell DNA sequence-specific fluorescent labeling and single-cell sequencing methods, PGD has become a very effective treatment method for detecting genetic diseases caused by mutations in single genes in early embryos. However, the single cell or very small amount of DNA required by this method is highly demanding. However, PD can collect multicellular fetal samples, and DNA manipulation is ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/6858
CPCC12Q1/6883C12Q1/6809C12Q2600/156
Inventor 林巍蔡长明
Owner 苏州鑫卓信生物科技有限公司
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