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Gene detection probe group for newborn inherited metabolic diseases and hemoglobinopathy and application thereof

A technology for hemoglobinopathies and gene detection, which is applied in the application fields of 26 genetic metabolic diseases and 3 hemoglobinopathies in neonates, can solve the problems of high cost, cumbersome operation, long detection cycle, etc. Foreground, the effect of large flux

Pending Publication Date: 2020-03-31
福建福君基因生物科技有限公司 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

For hemoglobinopathies, four methods, high performance liquid chromatography (HPLC), electrophoresis, MCV and erythrocyte fragility, are used as the main clinical screening methods. The above methods are cumbersome to operate, and the detection cycle is long and expensive.

Method used

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  • Gene detection probe group for newborn inherited metabolic diseases and hemoglobinopathy and application thereof
  • Gene detection probe group for newborn inherited metabolic diseases and hemoglobinopathy and application thereof
  • Gene detection probe group for newborn inherited metabolic diseases and hemoglobinopathy and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0050] Example 1 Gene detection probe sets for 26 kinds of genetic metabolic diseases and 3 kinds of hemoglobinopathies in newborns

[0051] The inventor has obtained 26 kinds of genetic metabolic diseases and 3 kinds of hemoglobinopathies and their related genes in newborns after consulting a large number of literatures and databases related to genetic metabolic diseases and hemoglobinopathic genes of newborns (see Table 2 and Table 3 for details). Through high-throughput experimental screening and related experimental verification, 785 probe capture regions were finally selected (the capture regions are shown in Table 1). The combined use of probes targeting the probe capture regions can be used to detect 26 genetic metabolic diseases in newborns It is compatible with 3 kinds of causative genes of hemoglobinopathies; the probe specificity and high sensitivity for the capture region of the designed probe are strong, and it can be used for the deletion, duplication and point mu...

Embodiment 2

[0057] Example 2 Screening method for 26 kinds of genetic metabolic diseases and 3 kinds of hemoglobinopathies in newborns

[0058] Screening kits for neonatal genetic metabolic diseases and hemoglobinopathy: including genomic DNA extraction reagents, DNA end repair and adapter ligation reagents, PCR reaction reagents, product purification reagents, genetic detection probe sets for neonatal genetic metabolic diseases and hemoglobinopathy Mixture etc.

[0059] The steps to use the kit are as follows:

[0060] (1) Sample collection and extraction: Taking the blood samples of 9 patients with clinically diagnosed neonatal genetic diseases provided by Shanghai Children's Hospital as an example, the genomic DNA was extracted with the QIAamp DNA Blood Mini Kit;

[0061] (2) DNA fragmentation: Genomic DNA is ultrasonically broken into DNA fragments of 100-500 bp;

[0062] (3) End repair and adapter ligation: use the KAPA Hyper Plus Kit (Illumina) kit to perform end repair and sequen...

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Abstract

The invention, which belongs to the technical field of gene detection, provides a gene detection probe group for newborn inherited metabolic diseases and hemoglobinopathy and application thereof. Theprobe group covers 785 probe capture areas; corresponding probes are obtained for corresponding 49 genes based on the provided probe capture areas; according to the conventional method; and 26 geneticmetabolic diseases and 3 hemoglobinopathies of the newborns can be effectively screened by combining a target sequence liquid phase hybridization capture technology with a high-throughput sequencingtechnology. The gene detection probe group having advantages of high accuracy, high specificity and high throughput has the broad application prospects.

Description

technical field [0001] The invention belongs to the field of gene detection in the field of molecular diagnosis, and specifically covers 49 single-gene detection probe sets and its application in neonatal 26 genetic metabolic diseases and 3 hemoglobin diseases. Background technique [0002] In the past 14 years (2005-2019), next generation sequencing technology (next generation sequencing, NGS) has gradually grown from a new technology to a mainstream sequencing technology, and gradually entered the field of clinical diagnosis. With its simple, rapid, high-resolution, and high-throughput features, NGS is widely used in the prevention and control of infectious diseases, early diagnosis and treatment of tumors, early screening and diagnosis of genetic diseases, non-invasive prenatal screening, and pre-embryo implantation. Areas such as diagnosis and screening are playing an increasing role. [0003] Inherited metabolic diseases (IMD) are caused by mutations in genes encoding ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11C12Q1/6869C12Q1/6816
CPCC12Q1/6883C12Q1/6869C12Q1/6816C12Q2600/156C12Q2535/122
Inventor 张蕾杨明郑成洁
Owner 福建福君基因生物科技有限公司
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