Familial specific genetic disease correlated allele haplotype variation tag confirmation method

A technology of alleles and haplotypes, applied in the fields of molecular biology and genetics, can solve problems such as no unified and standardized methods, and achieve the effects of easy operation and understanding, low sequencing costs, and saving detection costs

Inactive Publication Date: 2015-08-26
苏州鑫卓信生物科技有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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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 diagn

Method used

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  • Familial specific genetic disease correlated allele haplotype variation tag confirmation method
  • Familial specific genetic disease correlated allele haplotype variation tag confirmation method
  • Familial specific genetic disease correlated allele haplotype variation tag confirmation method

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, et al. Mutation frequencies of EXT1 and EXT2in43Japanese 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 present invention provides a method for identifying the haplotype variation tags of the family-specific hereditary disease related alleles, comprising extracting the genomic DNA of at least five members selected from a family with Mendelian hereditary disease, obtaining the information of the disease-related target genes, amplifying and sequencing the DNA fragments of the target gene regions in each genomic DNA, selecting all the variation loci existing in the target gene regions in each genomic DNA respectively, obtaining the genotype of each variation locus in each genomic DNA, and genetically analyzing the typing results of the variation loci in each genomic DNA together with the disease traits, thereby identifying the haplotype variation tags of the disease-related alleles.

Description

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Claims

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Application Information

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IPC IPC(8): C12Q1/68
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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