New mutation-causing gene slc12a3 in gitelman syndrome, its encoded protein and its application

A disease-causing gene and syndrome technology, applied in the field of medical molecular biology, can solve problems that are easily overlooked or misdiagnosed, and have no correlation found, and achieve the effect of effective molecular diagnosis basis

Active Publication Date: 2019-05-21
SHANDONG PROVINCIAL HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

In addition, GS is also highly genetically heterogeneous, but so far no correlation has been found between its mutation type and disease severity
The phenotypes of GS patients are diverse, and some of them may only show symptoms such as fatigue, so they are easily overlooked or misdiagnosed

Method used

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  • New mutation-causing gene slc12a3 in gitelman syndrome, its encoded protein and its application
  • New mutation-causing gene slc12a3 in gitelman syndrome, its encoded protein and its application
  • New mutation-causing gene slc12a3 in gitelman syndrome, its encoded protein and its application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0031] Example 1 Obtaining and identifying the mutant gene SLC12A3

[0032] 1. Sample collection

[0033] During the treatment of a domestic patient, the applicant of the present invention conducted research on the patient’s consultation, physical examination, laboratory examination and imaging examination and found that the patient had paroxysmal weakness of the limbs, and the blood potassium and magnesium levels Lower than normal, there are symptoms such as low urine calcium, but blood pressure is normal. The patient has no history of long-term diuretics, laxatives, alcohol or drug addiction, and no bad habits. The above-mentioned manifestations of this patient are consistent with the typical symptoms of Gitelman syndrome, so it is considered that it may be a patient with Gitelman syndrome. To further confirm the diagnosis, the inventors decided to conduct genetic screening for him and his family members. The family is a three-generation Chinese family (e.g. figure 1 As shown)...

Embodiment 2

[0047] Example 2 A diagnostic kit for diagnosing Gitelman syndrome

[0048] The kit includes primers that can specifically amplify the gene SLC12A3, the primer sequence: F: 5'-GCGGTCTTGTTCACTGCTATA-3', R: 5'-GCCATTCTGTGGTGTCCCTC-3'.

[0049] PCR reaction system:

[0050] 2.0ul dNTP

[0051] 2.5ul 10×PCR buffer

[0052] 0.15ul Taq enzyme

[0053] 2ul genomic DNA

[0054] 0.5ul 10um upstream and downstream primers

[0055] ddH 2 O makes up 25ul.

[0056] The PCR reaction conditions were: pre-denaturation at 94°C for 3min on a gradient PCR machine; subsequent denaturation at 94°C for 30s, annealing at 59-64°C for 45s, extension at 72°C for 30s, a total of 40 cycles; finally extension at 72°C for 10min.

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PUM

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Abstract

The present invention relates to a new mutation-causing gene SLC12A3 of Gitelman syndrome, its encoded protein and its application. The present invention has identified and obtained the mutant SLC12A3 gene through genetic screening and follow-up on a recently admitted GS patient and his family members, which is the same as the wild Compared with the SLC12A3 gene sequence, there was an insertion-deletion frame-shift mutation in exon 8 of the mutant sequence. Compared with the wild-type SLC12A3 protein, the mutated SLC12A3 encoded protein has a frame shift from the 332nd codon. The invention can provide a new site for the gene diagnosis of Gitelman syndrome, enrich the resource bank of mutation sites related to the disease, and provide more basis for subsequent patient diagnosis. The disease can be diagnosed and typed by detecting the SLC12A3 gene sequence of Gitelman syndrome patients, and it can also make reasonable prenatal diagnosis for the fetus to achieve the purpose of prenatal and postnatal screening.

Description

Technical field [0001] The invention relates to a new mutant pathogenic gene SLC12A3 of Gitelman syndrome, its coding protein and application, and belongs to the field of medical molecular biology. Background technique [0002] Gitelman syndrome (Gitelman syndrome, GS, OMIM263800) is one of the common causes of hereditary hypokalemia. Its global incidence is about 25 / 1,000,000, and the incidence is higher in Asian populations. Studies have found that the incidence in Japan It can reach 10.3 / 10000 [see A new familial disorder characterized by hypokalemia and hypomagnesemia[J]. Trans Assoc Am Physicians, 1966, 79:221-235. And Four novel mutations in the thiazide-sensitive Na-Cl contransporter genein Japanese patients with Gitlema's syndrome[J].Nephrol Dial Transplant,2004,19(7):1761-1766.]. The main clinical manifestations include hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalcemia and normal blood pressure. The disease is mainly caused by mutations in the SLC12A3 gene...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C07K14/47C07K16/18C12Q1/6883G01N33/68
CPCC07K14/47C07K16/18C12Q1/6883C12Q2600/156G01N33/6893G01N2333/47G01N2800/04
Inventor 徐潮石然然赵家军高聆
Owner SHANDONG PROVINCIAL HOSPITAL
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