Kit and application thereof in detection on hereditary bone disease genes

A kit and gene technology, applied in specific-purpose bioreactors/fermenters, microbial measurement/inspection, biochemical instruments, etc., can solve the problems of consuming a lot of time and cost

Inactive Publication Date: 2016-05-18
天津华大基因科技有限公司 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Due to the high clinical and genetic heterogeneity of hereditary bone diseases, the clinical manifestations of multiple syndromes overlap, and the traditional genetic detection methods of hereditary bone diseases need to consume a lot of time and cost[Maria LBran. ;3:528.]

Method used

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  • Kit and application thereof in detection on hereditary bone disease genes
  • Kit and application thereof in detection on hereditary bone disease genes
  • Kit and application thereof in detection on hereditary bone disease genes

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0046] A case of bone abnormality, suspected dwarfism and micrognathia (Tianjin Disabled Persons' Federation) was tested. The patient could not be clinically diagnosed with any disease. After the detection of hereditary bone disease NGSPanel (the above-mentioned liquid chip), a mutation of unknown clinical significance c.542G> was found in the osteoplasia type I pathogenic gene FLNB A(p.Gly181Asp), the final patient was diagnosed as osteodysplasia type I.

[0047] The DNA of the sample is extracted by the salting out method, and the large fragments of DNA are ultrasonically fragmented. The current sample fragmentation method is the Covaris fragmentation method, which fragments the sample DNA into fragments in the range of 100-700bp. (Note: The interrupting effect is generally ideal if the main band of the Insert fragment of the required prepared library is at the position of 200-250bp. If the interrupting effect is not ideal, it needs to be interrupted again.)

[0048] 1. Lib...

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Abstract

The invention discloses a kit, an application thereof in detection on hereditary bone disease genes, and also a method and an apparatus for detection on the hereditary bone disease genes. The kit includes a probe which is fixed on a solid-phase substrate or is free in a solution. The probe can specially recognize exon regions of 722 or 363 genes, for example, the exon regions of the following nine genes: PHEX, ENPP1, FGF23, CLCN5, SLC34A3, DMP1, VDR, CYP2R1 and CYP27B1. The kit, and as well as the method and the apparatus for detection on the hereditary bone disease genes are used for one-time acquiring and / or detecting related genes of the hereditary bone disease and mutation status thereof.

Description

technical field [0001] The present invention relates to the field of gene detection, specifically, the present invention relates to a kit and its use in detecting hereditary bone disease genes, more specifically, the present invention relates to a kit and its use in detecting hereditary bone disease genes , A method for detecting a genetic bone disease gene and a device for detecting a genetic bone disease gene. Background technique [0002] Hereditary bone disorders are a large group of highly clinically and genetically heterogeneous congenital disorders (overall incidence >1 in 400), often monogenic. Common clinical manifestations of inherited bone diseases include short stature, skeletal deformities, disproportionate growth, and dysplasia of a single or group of bones. The etiology of genetic bone diseases is complex, due to the numerous metabolic pathways and signaling pathways involved in skeletal development, growth, and homeostasis, as well as the mutual regulatio...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12M1/34
Inventor 王佳伟阿叁刘久成高长欣
Owner 天津华大基因科技有限公司
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