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Application of SF3B1 gene mutation in auxiliary diagnosis on prolactin-type pituitary adenoma

A technology for SF3B1 and pituitary adenoma, which is applied in the determination/testing of microorganisms, biochemical equipment and methods, instruments, etc.

Pending Publication Date: 2021-11-05
BEIJING NEUROSURGICAL INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] However, there are no reports on the application of splicing factor subunit SF3B1 mutations in the diagnosis of pituitary adenomas, especially PRL-type pituitary adenomas.

Method used

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  • Application of SF3B1 gene mutation in auxiliary diagnosis on prolactin-type pituitary adenoma
  • Application of SF3B1 gene mutation in auxiliary diagnosis on prolactin-type pituitary adenoma
  • Application of SF3B1 gene mutation in auxiliary diagnosis on prolactin-type pituitary adenoma

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0075]Example 1 Design of primers and TaqMan-MGB probes for detecting SF3B1 c.1874G>A gene mutation

[0076] According to the published SF3B1 gene sequence (GenBank TM Accession number NM_012433.4, the nucleotide sequence of which is shown in SEQID NO: 1) and the SF3B1 c.1874G>A mutation designed primers for the SF3B1 gene and probes for the SF3B1 mutant allele (hereinafter referred to as the mutant Allele probe) and a probe for the wild-type allele of SF3B1 (hereinafter referred to as the wild-type allele probe) to detect the SF3B1 c.1874G>A mutation. in:

[0077] Primers for the SF3B1 gene are primers for complementary probe regions and TaqMan MGB probes (TsingKeBiological Technology), including a primer pair consisting of forward primer SF3B1-PF and reverse primer SF3B1-PR, and their specific sequences are as follows:

[0078] SF3B1-PF: 5'-CTGGCTACTATGATCTCTACCATGAGA-3' (SEQ ID NO: 3)

[0079] SF3B1-PR: 5'-GAGGCTACAACAGCAAAAGCTCTA-3' (SEQ ID NO: 4)

[0080] The mutant a...

Embodiment 2

[0089] Example 2 Detection of SF3B1 c.1874G>A mutation in prolactin (PRL) type pituitary adenoma

[0090] Surgical specimens from radical resection of prolactinogenic pituitary adenoma were collected in the neurosurgery department of the hospital, and each patient signed an informed consent.

[0091] Prolactinogenic pituitary adenoma inclusion criteria:

[0092] 1. Serum prolactin level PRL>90ng / ml.

[0093] 2. Clinical symptoms related to hyperprolactinemia and tumor mass effect, including menopause, lactation, infertility, sexual dysfunction, headache, visual impairment, etc.

[0094] 3. The pathological diagnosis was pituitary adenoma, and the immunohistochemistry showed positive PRL.

[0095] 4. Head MRI / CT showed sellar region lesions.

[0096] This study was approved by the ethics committee.

[0097] The primers designed in Example 1 and the TaqMan-MGB probe were used to detect the SF3B1 c.1874G>A mutation on the test samples of the case group, and at the same time, ...

Embodiment 3

[0135] Example 3 SF3B1 R625H Effects of Mutations on Prolactin Pituitary Adenoma Cells

[0136] Primary prolactin pituitary adenoma cells were infected with adenovirus fluids of wild-type and mutant (SF3B1 c.1874G>A) of SF3B1. Changes in prolactin levels in the cell supernatant were detected. The virus liquid of adenovirus expressing SF3B1 wild-type and mutant (SF3B1c.1874G>A) was purchased from Beijing Biochuan Biotechnology Co., Ltd.

[0137] Primary lactotrophs were divided into the following three groups:

[0138] (1) SF3B1 wild-type group: infected with SF3B1 wild-type adenovirus (adenovirus-SF3B1 WT ) cells, which are cells obtained by infecting primary prolactin pituitary adenoma cells with virus liquid expressing SF3B1 wild-type adenovirus;

[0139] (2) SF3B1 mutant group: infected with SF3B1 mutant adenovirus (adenovirus-SF3B1 R625H ) cells, which are cells obtained by infecting primary prolactin pituitary adenoma cells with virus liquid expressing SF3B1 mutant a...

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Abstract

The invention discloses an application of SF3B1 gene mutation in auxiliary diagnosis on pituitary adenoma, especially prolactin-type pituitary adenoma. According to the application, by detecting the SF3B1 gene mutation that c.1874G is greater than A and developing and applying a diagnostic kit, the diagnosis of the pituitary adenoma, particularly the prolactin-type pituitary adenoma, can be more convenient and easier, a patient can know the disease risk of the disease at an early stage, and a simple and effective auxiliary means is provided for drug screening, efficacy evaluation and targeted therapy of the pituitary adenoma, in particular the prolactin-type pituitary adenoma.

Description

technical field [0001] The invention relates to the field of auxiliary diagnosis of pituitary adenoma, in particular to the application in auxiliary diagnosis and typing products of prolactin (PRL) type pituitary adenoma. Background technique [0002] Pituitary tumor is one of the most common intracranial tumors, accounting for about 10-15% of intracranial tumors, and the incidence rate of the population is about 8-9 / 10,000. With the development of imaging technology, its detection rate shows a trend of increasing year by year. According to different endocrine characteristics, pituitary tumors can be divided into prolactin type (PRL), growth hormone type (GH), adrenocorticotropic hormone type (ACTH), thyrotropin type (TSH), nonfunctional type, and mixed type. Subtype. The tumor secretes various hormones abnormally, leading to significant endocrine disorder symptoms such as infertility, acromegaly, Cushing syndrome, and hyperthyroidism. [0003] Prolactin (PRL) pituitary a...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886C12N15/11G01N33/574
CPCC12Q1/6886G01N33/57407G01N33/57484C12Q2600/156C12Q2600/112C12Q2600/106
Inventor 李储忠谢微嫣郭靖王红云龚磊李丹张亚卓
Owner BEIJING NEUROSURGICAL INST
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