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Reagent kit for detecting glycogen storage disease type III (GSD III) AGL gene mutation and application of reagent kit

A hepatic glycogen and kit technology is applied in the field of detecting hepatic glycogen storage disease type III AGL gene mutation, which can solve the problems of difficulty in operation, fetal risk, and inability to carry out examinations for carriers.

Inactive Publication Date: 2016-06-15
FUZHOU HOSPITAL FOR INFECTIOUS DISEASE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, the actual operation is more difficult. Most patients or parents do not accept liver and muscle biopsy, and it is even impossible to check the carrier. If the fetal liver biopsy is performed for prenatal diagnosis, it will bring danger to the fetus.

Method used

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  • Reagent kit for detecting glycogen storage disease type III (GSD III) AGL gene mutation and application of reagent kit
  • Reagent kit for detecting glycogen storage disease type III (GSD III) AGL gene mutation and application of reagent kit
  • Reagent kit for detecting glycogen storage disease type III (GSD III) AGL gene mutation and application of reagent kit

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Experimental program
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Embodiment 1

[0081] (1) Sample preparation. The clinician suspected that patient A was a genetic metabolic liver disease glycogen accumulation syndrome type III, but the diagnosis could not be confirmed, so he decided to carry out genetic testing.

[0082] ⑵ sample processing. Take about 2ml of venous blood from subject A, put it in a heparin anticoagulant tube, store it at low temperature and avoid light, and transport it to the laboratory; DNA extraction from whole blood Take 300 μL of blood from the sample, add 900 μL of red blood cell lysate, mix it upside down, and leave it at room temperature for 5 minutes , and invert several times during this period. Centrifuge at 10,000rpm for 1 minute, remove the supernatant, and leave the white blood cells.

[0083] (3) Genomic DNA extraction. Add 20μl proteinase K (20mg / ml) solution to the above 1.5ml centrifuge tube containing leukocytes, mix well and centrifuge quickly, then add 200μl buffer GB, fully invert and mix well, place at 70°C for...

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Abstract

The invention relates to a reagent kit for detecting glycogen storage disease type III (GSD III) AGL gene mutation and application of the reagent kit. The reagent kit mainly comprises specific amplification primers and a PCR reaction reagent which are used for detecting 10 exons including Exon6, Exon13, Exon14, Exon15, Exon26, Exon27, Exon31, Exon32, Exon33 and Exon34 of AGL gene. The reagent kit is used for detecting 10 exon mutation sites of AGL gene related to GSD III, is good in specificity and high in sensitivity, can obviously improve the diagnostic rate of atypical GSD III cases, and is an important means for effectively reducing the morbidity of GSD III by antenatal diagnosis.

Description

(1) Technical field [0001] The invention relates to a kit for detecting type III AGL gene mutation of hepatic glycogen accumulation disease and its application. (2) Background technology [0002] Glycogen storage disease type III (Glycogen Storage Disease Type III, GSD III), also known as Cori disease, is an autosomal recessive genetic disorder of glycogen metabolism caused by a defect in glycogen debranching enzyme (glycogen debranchingenzyme, AGL). AGL has two independent catalytic sites, ɑ-1,6-glucosidase (EC3.2.1.33) and ɑ-1,4-glycosyltransferase (EC3.4.1.25), complete AGL activity Both glucosidase and glucotransferase are required to work together. According to different enzyme defects and affected tissues and organs, GSD III can be divided into four subtypes, namely GSD IIIa, GSD IIIb, GSD IIIc and GSD IIId. Among them, GSD IIIa, which lacks AGL activity in liver and muscle, is the most common, accounting for about 100% of the total. 85% of GSDIII type, the other thr...

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156C12Q2600/166
Inventor 刘小龙刘景丰魏大海曾永毅蔡志雄
Owner FUZHOU HOSPITAL FOR INFECTIOUS DISEASE