Nervous system genetic disease gene united screening method, kit and preparation method thereof

A genetic disease and nervous system technology, applied in the field of kits for screening various nervous system genetic diseases, can solve the problems of low efficiency, long sequence and high cost

Inactive Publication Date: 2016-10-12
GENERGY BIO TECH SHANGHAI CO LTD
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  • Application Information

AI Technical Summary

Problems solved by technology

However, there is still no kit that can simultaneously screen for multiple genetic diseases of the nervous system
There are two reasons: First, there are many pathogenic genes and long sequences. At present, there are about 235 pathogenic genes related to neurogenetic diseases that have been mapped or cloned; second, traditional sequencing methods are low in efficiency and hi...

Method used

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  • Nervous system genetic disease gene united screening method, kit and preparation method thereof
  • Nervous system genetic disease gene united screening method, kit and preparation method thereof
  • Nervous system genetic disease gene united screening method, kit and preparation method thereof

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Embodiment Construction

[0059] 1. Use the kit to screen 216 patients with neurogenetic diseases for pathogenic genes

[0060] Symptoms of the patient: Female, 17 years old, has been walking unsteadily since the age of six. At the age of fifteen, she underwent surgical correction of left foot varus.

[0061] Clinical manifestations: weakened distal muscle strength, muscle atrophy of the hands, weakened tendon reflexes of the limbs. The electromyography showed multiple peripheral nerve damage, mainly motor sensory nerve axonal damage.

[0062] Diagnosis: Peroneal muscular atrophy (Charcot-Marie-Tooth, CMT) is also known as hereditary motor sensory neuropathy (HMSN).

[0063] Incidence rate: 1 / 2500.

[0064] Disease characteristics: It has obvious genetic heterogeneity. The main clinical feature is progressive muscle weakness and atrophy of the distal limbs with sensory disturbances. Most of the inheritance is autosomal dominant, but also autosomal recessive or X-linked inheritance.

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Abstract

The invention provides a nervous system genetic disease gene united screening method, a kit and a preparation method thereof. The gene screening method includes: firstly constructing a whole-genome DNA library construction of a subject, then capturing a target gene sequence with the prepared nervous system genetic disease gene screening kit, then detecting the sample through a double-end 150bp sequencing mode of a high-throughput sequencing platform (Illumina HiSeq 3000), performing bioinformatic analysis of the data result, and finding out mutation information sites of genes related to nervous system genetic diseases so as to reach the genetic diagnosis purpose. The method provided by the invention can rapidly and accurately cover the exon regions of all nervous system genetic disease genes known at present.

Description

Technical field [0001] The invention relates to the technical field of gene screening, and more specifically, to a kit for screening various genetic diseases of the nervous system and a preparation and use method thereof. Background technique [0002] Nervous system genetic diseases are due to abnormalities in the genetic material of reproductive cells or fertilized eggs, which cause the development of individuals to have neurological deficits as the main clinical manifestations. The genetic diseases of the nervous system are the most common. Among the more than 5,000 monogenic diseases in humans, about 60% of them affect the nervous system. Inheritance methods include single gene inheritance, polygene inheritance, mitochondrial diseases and chromosomal diseases. The prevalence of single gene inherited diseases of the nervous system in China is about 109.3 / 100,000. Nervous system genetic diseases can occur at any age, but most of them have clinical symptoms and signs in children...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156C12Q2600/158
Inventor 熊玉宇邹晓文杨福兰叶思彬
Owner GENERGY BIO TECH SHANGHAI CO LTD
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