Marker of pathogenic gene of hereditary thyroid dysfunction disease and detection kit thereof

A technology of thyroid function and detection kit, which is applied in the field of biomedicine and can solve the problems of large sample demand, small throughput, and low sensitivity

Pending Publication Date: 2021-03-16
RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] The technical problem to be solved by the present invention is to provide a marker of the pathogenic gene of hereditary abnormal thyroid function and its detection kit, which overcomes the disadvantages of the existing Sanger sequencing method due to its small throughput, low sensitivity and large sample demand. and other technical defects

Method used

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  • Marker of pathogenic gene of hereditary thyroid dysfunction disease and detection kit thereof
  • Marker of pathogenic gene of hereditary thyroid dysfunction disease and detection kit thereof
  • Marker of pathogenic gene of hereditary thyroid dysfunction disease and detection kit thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0024] 1.1 Specimen collection and storage

[0025] 1.1.1 Blood samples

[0026] All blood samples were collected in special tubes, among which, common tubes used for biochemical assays were used for serum collection, and EDTA anticoagulant tubes were used for plasma collection. Anticoagulant blood samples were collected and stored in a -80°C ultra-low temperature refrigerator.

[0027] 1.1.2 The general steps of peripheral blood DNA extraction and storage (according to the QIAamp DNA Mini Kit instructions) are as follows:

[0028] (1) Cleavage and digestion (2) DNA adsorption (3) DNA washing (4) DNA elution (5) DNA concentration determination and quality assessment: use NanoDrop spectrophotometer to measure DNA absorbance and concentration, the concentration is 20-200ng / μL , OD260 / OD280 ratio is in the range of 1.8-2.0; DNA integrity is detected by agarose gel electrophoresis, and the general DNA fragment size is 20-40kb. (6) Sample storage: The obtained peripheral blood DNA...

Embodiment 2

[0210] Clinical Application of Thyroid Platform

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PUM

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Abstract

The invention relates to a marker of a pathogenic gene of a hereditary thyroid dysfunction disease and a detection kit thereof. A target region not only comprises all exon regions, but also covers a splicing region and a part of intron region; and the coverage rate of the target region reaches 98.4 percent. Therefore, the kit designed by the invention covers the gene more comprehensively; more genes are detected in one time; and the kit is economical and efficient and is good for improving the mutation detection rate.

Description

technical field [0001] The invention belongs to the technical field of biomedicine, and in particular relates to a marker of a pathogenic gene of a hereditary thyroid dysfunction disease and a detection kit thereof. Background technique [0002] Hereditary dysthyroidism is a large group of hypothyroidism or hyperthyroidism caused by mutations in germline genes. It has a wide spectrum of diseases, covering defects of the hypothalamus-pituitary-thyroid axis, abnormalities in the transport of thyroid hormones in the blood, and abnormalities in the transport and response of thyroid hormones in target tissues; Various diseases caused by gene mutations related to synthesis pathway, thyroid hormone transport and target organ response, including thyroid dysgenesis caused by gene mutation, thyroid hormone synthesis disorder (thyroid dyshormonogenesis, TD) caused by gene mutation, TSH Thyroid diseases caused by receptor gene mutations, thyroid diseases caused by hereditary hypothalam...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6869C12N15/11
CPCC12Q1/6883C12Q1/6869C12Q2600/156C12Q2600/16C12Q2531/113C12Q2537/143C12Q2525/191C12Q2535/101
Inventor 叶蕾韩如来张洁沈力韵
Owner RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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