Inherited metabolic disease screening method and reagent kit

A kit and gene technology, applied in the field of genetic testing, can solve the problems of gene diagnosis limitation, high sequencing cost, large amount of sequencing data, etc., and achieve the effect of low cost, high accuracy, and saving of sequencing data volume.

Active Publication Date: 2016-02-03
艾吉泰康(嘉兴)生物科技有限公司
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  • Application Information

AI Technical Summary

Problems solved by technology

The high cost of sequencing caused by the huge data volume requirements has limited the application of whole genome sequencing in the genetic diagnosis of inherited metabol

Method used

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  • Inherited metabolic disease screening method and reagent kit
  • Inherited metabolic disease screening method and reagent kit
  • Inherited metabolic disease screening method and reagent kit

Examples

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Embodiment

[0042] 1. Preparation of kits for pathogenic genes related to inherited metabolic diseases

[0043] The kit includes a genetic metabolic disease-related pathogenic gene DNA probe library prepared by the following method:

[0044]1) According to the human reference genome HG19, combined with Ensembl, CCDS, Gencode, VEGA, SNP and CytoBand databases, obtain all the coding sequences of the pathogenic genes related to genetic metabolic diseases in Table 1 below;

[0045] Table 1 List of pathogenic genes related to inherited metabolic diseases

[0046] (gene names from http: / / www.genenames.org / ):

[0047] GNPTG

FOXG1

HGD

SARDH

GNPTAB

HMGCL

ARX

GM2A

UROC1

SLC36A2

ABAT

CPS1

HPD

MMACHC

IDUA

ARG1

AMT

OAT

BTD

MVK

SLC6A19

SUOX

ETFDH

OPA3

MUT

HEXA

BCAT1

SLC6A20

PCCB

MMAB

DDC

PNPO

ALDH6A1

FOLR2

HEXB

ALPL

SLC7A9

PCCA

MMA...

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Abstract

The invention provides an inherited metabolic disease screening method and a reagent kit. The method includes the steps that following libraries are built, according to each encoding sequence of inherited metabolic disease associated disease-causing genes and the principle of sequence reverse complement, from 5' to 3', a probe sequence with the length being 120 bp starts to be designed from the first basic group, and besides, 60 bp superposition exists between every two adjacent probe sequences; a TAGGTGTGTAGGCGC sequence and a GTCAGCTAGTACGCA sequence are added to the 5' end and the 3' end of each probe sequence respectively; by the adoption of the oligonucleotide in-situ synthesis technology, large-scale synthesis of oligonucleotides is carried out on a chip; the oligonucleotides on the chip are eluted through ammonia water and dissolved in water to form an oligonucleotide mixture; through the PCR method, forward primers (TTAGATAGGTGTGTAGGCGC) and reverse primers (TAAGGTGCGTACTAGCTGAC) provided with biotin labels at the 5' ends are adopted, the oligonucleotide mixture is amplified, and an inherited metabolic disease associated disease-causing gene DNA probe library with the biotin labels is formed.

Description

technical field [0001] The invention belongs to genetic detection, in particular to the detection of gene mutation. Background technique [0002] Inherited metabolic diseases are genetic defects in the biosynthesis of certain enzymes, receptors, carriers and membrane pumps composed of polypeptides and (or) proteins that are necessary to maintain the normal metabolism of the body, that is, mutations in the genes encoding such polypeptides (proteins) resulting in diseases. Most of them are single-gene genetic diseases. Some of the causes of genetic metabolic diseases are caused by genetic inheritance, and some are caused by acquired gene mutations. The onset period is not only newborns, but also covers all ages. [0003] Inherited metabolic diseases are extremely harmful to the human body. Common symptoms include nervous system abnormalities, metabolic acidosis and ketosis, severe vomiting, hepatomegaly or hepatic insufficiency, special odor, strange appearance, skin and hair...

Claims

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Application Information

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IPC IPC(8): C40B50/06C40B40/06C12Q1/68
Inventor 蔡万世王瑞超屈武斌杭兴宜
Owner 艾吉泰康(嘉兴)生物科技有限公司
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