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gnas gene mutation detection reagent

A detection kit, gene technology, applied in the direction of DNA/RNA fragment, recombinant DNA technology, determination/inspection of microorganisms, etc.

Active Publication Date: 2019-04-19
天津精耐特基因生物技术有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, there is no report on molecular diagnosis of MAS. This invention applies PAP technology to clinical diagnosis of MAS for the first time, which will have positive significance for improving the diagnosis efficiency of this disease.

Method used

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Effect test

Embodiment 1

[0033] Such as figure 1 As shown, the GNAS gene mutation detection kit of the present invention is obtained by combining the conventional methods of obtaining kits in the art, and the main components are as described in Table 1 below.

[0034] Table 1

[0035]

[0036] The components in different batches of reagents are not interchangeable.

[0037] The applicable instrument for the above-mentioned GNAS gene mutation detection kit is a real-time fluorescent PCR detector.

[0038] The storage conditions and validity period of the above-mentioned GNAS gene mutation detection kit are as follows: store in a cool and dark place at -20°C, avoid repeated freezing; the validity period is 6 months from the date of passing the test. During transportation, it should be refrigerated below 4°C.

[0039] The reference substance of the above-mentioned GNAS gene mutation detection kit should be returned to room temperature and shaken well before use; it is forbidden to use heparin as an...

Embodiment 2

[0077] 1 Materials and methods

[0078] 1.1 Subjects of the study: From January 2006 to September 2013, there were 36 children (35 females and 1 male) with clinically suspected MAS in the Department of Pediatrics, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine; the average age of onset was (3.48±1.89) years old (from 1 month to 6.8 years old); neither parent is consanguineous. According to the clinical characteristics, 36 children with suspected MAS were divided into a typical group of 11 cases (non-GnRH-dependent precocious puberty and fibrous dysplasia, with or without skin café-au-lait spots) and an atypical group of 25 cases (only non-GnRH There were 16 cases of dependent precocious puberty, and 9 cases with café-au-lait spots on the skin); all examinations obtained the informed consent of the parents or guardians of the children. Another 33 unrelated healthy adult men and women served as the control group.

[0079] 1.2 Research Methods

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Abstract

The invention provides a GNAS gene mutation detection kit. The GNAS gene mutation detection kit comprises an optical pore plate, PAP (paraaminophenol) polymerase, buffering agents, special primers, dNTP (deoxyribonucleoside triphosphate) and PPi; the PAP polymerase, the buffering agents, the special primers, the dNTP and the PPi are labeled in reaction holes; and the kit can be used for detecting three types of gene mutation of 201 codons of GNAS genes of somatic cells in a whole blood leucocyte genome, namely R201H (CGT-CAT), R201L(CGT-CTT) and R201C (CGT-TGT), so that MAS syndrome caused by GNAS gene mutation of the somatic cells can be clinically diagnosed in an assisting manner.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a GNAS gene mutation detection kit. Background technique [0002] McCune-Albright syndrome (MAS), also known as polyostotic fibrous dysplasia, is a rare disease caused by mutations in the GNAS1 gene encoding the guanine nucleotide-binding protein (G protein) alpha subprotein (Gsα) Clinically, precocious puberty, multiple fibrous dysplasia and skin patchy pigmentation are the most common symptoms. A small number of patients also have other endocrine function abnormalities. The cause is guanine in the process of embryogenesis. Mutations in the nucleotide-binding protein (G protein) alpha subunit (Gsα) gene result in stimulation of cAMP production that activates receptors for many endocrine hormones. [0003] At present, the clinical diagnosis of this disease is mainly differentiated from osteitis deformans and neurofibromatosis (von Recklinghausen disease): 1. osteitis deformans, when...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6827C12Q1/6853C12Q1/6883C12Q2600/156
Inventor 丁少峰刘强
Owner 天津精耐特基因生物技术有限公司
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