Kit for diagnosing Von Hippel-Lindau (VHL) disease

A kit and reagent technology, applied in the field of kits for diagnosing VHL disease, can solve the problems of misdiagnosis and mistreatment of patients, complex clinical manifestations, low diagnostic accuracy, etc. one effect

Active Publication Date: 2011-11-16
上海仁东医学检验所有限公司
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Problems solved by technology

The clinical manifestations of VHL disease are complex, and the diagnostic accuracy of clinical features combined with imaging data is not high, and many doctors in China do not know this disease, so many patients are misdiagnosed and mistreated, and both kidneys are removed prematurely, and they can only rely on dialysis to maintain their lives. The patient's quality of life is severely reduced

Method used

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  • Kit for diagnosing Von Hippel-Lindau (VHL) disease
  • Kit for diagnosing Von Hippel-Lindau (VHL) disease
  • Kit for diagnosing Von Hippel-Lindau (VHL) disease

Examples

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Embodiment 1

[0033] Embodiment 1, the diagnosis of VHL disease

[0034] Step 1: PCR clone the three exon coding sequences of the VHL gene of the peripheral blood genomic DNA of the test subject, then sequence them, compare them with the normal VHL gene sequence, and analyze the VHL gene mutation of the test subject. If there is a target mutation, then It is considered that the test subject suffers from VHL disease, if there is no target mutation, then proceed to the following step 2;

[0035] Step 2: Amplify the internal reference gene (β-globin) and the three exons of the VHL gene by fluorescent quantitative PCR with general primers, and use gene scanning to detect the deletion or insertion of the VHL gene. If there is a deletion or insertion, it is considered to be The test subject suffers from VHL disease; if there is no insertion or deletion, it is confirmed that the test subject does not suffer from VHL disease.

[0036] details as follows:

[0037] 1. PCR cloning and sequencing of ...

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Abstract

The invention discloses a kit for diagnosing Von Hippel-Lindau (VHL) disease. The kit for diagnosing the VHL disease comprises a primer pair 1 consisting of deoxyribonucleic acid (DNA) molecules shown as SEQ ID No.1 and DNA molecules shown as SEQ ID No.2, a primer pair 2 consisting of DNA molecules shown as SEQ ID No.3 and DNA molecules shown as SEQ ID No.4, and a primer pair 3 consisting of DNA molecules shown as SEQ ID No.5 and DNA molecules shown as SEQ ID No.6. Experiments prove that the kit ensures that a polymerase chain reaction (PCR) amplification product has a specific strip and hardly has a mixed strip, has a specific, clear and accurate sequencing result, and does not have any uncertain alkali group, namely the primers in the kit have high specificity, and a few mixed strips exist; and the kit provides convenience for screening family members with the VHL disease, and lays a foundation for fulfilling the aims of early discovery, early diagnosis and early treatment.

Description

technical field [0001] The invention relates to a kit for diagnosing VHL disease. Background technique [0002] von Hippel-Lindau (Hippel-Lindau) disease is a rare autosomal dominant genetic disease with an incidence rate of 1 / 36000. Due to the change of germ cell VHL gene, it leads to benign and malignant lesions of multiple organs. The main clinical manifestations are retinal hemangioma, central nervous system hemangioblastoma, renal carcinoma, renal cyst, pancreatic tumor or cyst, pheochromocytoma, epididymal tumor or cyst and other lesions. Renal carcinoma and central nervous system hemangioblastoma are the leading causes of death in VHL disease. The current clinical diagnostic criteria are solitary retinal hemangioma or hemangioblastoma of the central nervous system with a clear family history, accompanied by pheochromocytoma, kidney cancer, pancreas, epididymis and other damages, can be diagnosed; The diagnosis is made in sporadic patients with at least two retinal h...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
Inventor 龚侃那彦群张宁吴鹏杰
Owner 上海仁东医学检验所有限公司
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