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Application of USP8 gene detection object in preparation for ACTH-type pituitary adenoma molecular pathological diagnosis and typing products

A technology of pituitary adenoma and DNA molecules, applied in the field of application in the preparation of ACTH-type pituitary adenoma molecular pathological diagnosis and typing products

Inactive Publication Date: 2015-05-06
AFFILIATED HUSN HOSPITAL OF FUDAN UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There are currently no specific molecular diagnostic markers to differentiate them

Method used

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  • Application of USP8 gene detection object in preparation for ACTH-type pituitary adenoma molecular pathological diagnosis and typing products
  • Application of USP8 gene detection object in preparation for ACTH-type pituitary adenoma molecular pathological diagnosis and typing products
  • Application of USP8 gene detection object in preparation for ACTH-type pituitary adenoma molecular pathological diagnosis and typing products

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0041] Example 1. Whether the USP8 gene is mutated or not, and its application in assisting the identification of ACTH-type pituitary adenoma subtypes

12 example A

[0042] Whole-exome sequencing was performed on 12 cases of ACTH-type pituitary adenoma tumors and their own blood sample DNA for comparative analysis (the sequencer was Illumina Hiseq 2500). The results showed that USP8 gene mutations appeared in 8 cases of tumors, and the tumor volume was small. 4 cases of tumors The USP8 gene is wild-type, and the tumor volume is large; therefore, ACTH pituitary adenomas are divided into two subtypes: wild subtype ACTH pituitary adenomas with a diameter greater than or equal to, and mutant subtypes with diameters smaller than ACTH pituitary adenomas .

[0043] After the 12 samples were verified by Sanger to exclude false positives, the USP8 gene genotype was detected in another 108 cases of ACTH-type pituitary adenomas. The detection methods of a total of 120 samples were as follows:

[0044] Firstly, according to the USP8 gene (the nucleotide sequence is sequence 1 in the sequence table), primer pairs for amplifying it are designed, a total...

Embodiment 2

[0081] Example 2. Application of whether the USP8 gene is mutated in assisting detection of whether the patient with pituitary adenoma is ACTH-type pituitary adenoma

[0082] 150 cases of non-ACTH type pituitary adenoma patients (comprising 50 cases of hormone-free type, prolactin type, growth hormone type) tumors and 120 kinds of ACTH type pituitary adenoma patient tumors of embodiment 1 were carried out USP8 gene through pathological detection. Mutation detection, the specific method is as follows:

[0083] Genomic DNA of the tumors of each pituitary adenoma patient was extracted, PCR amplification was performed with primer pairs 1-3 of Example 1, and the PCR amplification products were sequenced.

[0084] The result is as follows:

[0085] The nucleotide sequences of the PCR amplification products of the tumors of 150 cases of non-ACTH type pituitary adenomas were consistent with the full length or partial fragments of the USP8 gene shown in Sequence 1, and the USP8 gene s...

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Abstract

The invention discloses an application of a USP8 gene detection object in preparation for ACTH-type pituitary adenoma molecular pathological diagnosis and typing products. The invention provides a kit used for detecting the ACTH-type pituitary adenoma subtypes of a to-be-detected patient with the ACTH-type pituitary adenoma, wherein the kit comprises a comparison card for recording a detection standard and a sequencer. Experiments of the application disclosed by the invention prove that USP8 gene mutation is peculiar in the ACTH-type pituitary adenoma, and does not exist in other types of pituitary adenoma, so that the USP8 gene mutation can be used as a specific molecular pathological diagnosis marker for the ACTH-type pituitary adenoma. The ACTH-type pituitary adenoma can be further divided into two subtypes, namely a mutant type (with the USP8 gene mutation) and a wide type (without the USP8 gene mutation), so that an individualized clinical treatment strategy is adopted in time.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to the application of a USP8 gene detection substance in the preparation of ACTH type pituitary adenoma molecular pathological diagnosis and typing products. Background technique [0002] Pituitary adenomas are the most common neuroendocrine tumors in the human body and one of the most common brain tumors (the incidence rate is the second). According to its different endocrine characteristics, it can be divided into several subtypes such as prolactin type, growth hormone type, adrenocorticotropic hormone type, thyroid stimulating hormone type, hormone-free type and mixed type. Tumors secrete various hormones abnormally, leading to significant endocrine disorder symptoms such as infertility, acromegaly, Cushing syndrome, and hyperthyroidism. Pituitary tumors are insidious in onset and slow in growth. When patients present with clinical symptoms and go to see a doctor, the tumor is often...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6886C12Q2600/156
Inventor 赵曜师咏勇黄传新陈剑华马增翼宋智健王镛斐李士其周良辅张朝云叶红英寿雪飞沈明
Owner AFFILIATED HUSN HOSPITAL OF FUDAN UNIV
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