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New mutant pathogenic gene SLC12A3 of Gitelman syndrome as well as encoded protein and application thereof

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: 2016-08-17
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 mutant pathogenic gene SLC12A3 of Gitelman syndrome as well as encoded protein and application thereof
  • New mutant pathogenic gene SLC12A3 of Gitelman syndrome as well as encoded protein and application thereof
  • New mutant pathogenic gene SLC12A3 of Gitelman syndrome as well as encoded protein and application thereof

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Experimental program
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Effect test

Embodiment 1

[0031] Example 1 Obtaining and Identification of Mutant Gene SLC12A3

[0032] 1. Sample collection

[0033] When the applicant of the present invention was treating a domestic patient, he found that the patient had episodic weakness of limbs, and the blood potassium and blood magnesium levels were average Lower than normal, there are symptoms such as hypocalciuria, but the blood pressure is normal. The patient had no history of long-term diuretics, laxatives, alcoholism or drug addiction, and no bad habits. The above manifestations of this patient were consistent with the typical symptoms of Gitelman syndrome, so it was considered that he might be a patient with Gitelman syndrome. For further diagnosis, the inventor decided to carry out genetic screening to him and his family members. The family is a three-generation Chinese family (such as figure 1 shown), a total of 6 people, including 1 patient (II-1) and 5 control samples (I-1, I-2, II-2, II-3, III-1). At the same tim...

Embodiment 2

[0047] Embodiment 2 A kind of diagnostic kit for diagnosing Gitelman syndrome

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

[0049] PCR reaction system:

[0050] 2.0ul dNTPs

[0051] 2.5ul 10×PCR buffer

[0052] 0.15ul Taq enzyme

[0053] 2ul genomic DNA

[0054] Each 0.5ul 10um upstream and downstream primers

[0055] wxya 2 O make up 25ul.

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

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Abstract

The invention relates to a new mutant pathogenic gene SLC12A3 of Gitelman syndrome as well as an encoded protein and application thereof. In the invention, through gene screening and follow-up visit of a recently treated GS patient and family members thereof, a mutant SLC12A3 gene is identified; and compared with the sequence of a wild SLC12A3 gene, the 8th exon in the mutant sequence has one insertion-deletion frame-shift mutation. According to comparison between the mutant SLC12A3 encoded protein and the wild SLC12A3 protein, frame shift appears since the 332nd-site codon. In the invention, a new site can be provided for the gene diagnosis of Gitelman syndrome, the resource library of mutant sites related to the disease is enriched, and more bases are provided for patient diagnosis in future. The disease can be diagnosed and typed by detecting the SLC12A3 gene sequence of the Gitelman syndrome patient, and reasonable prenatal diagnosis can be carried out for fetuses to achieve an aim of healthy child-bearing and child-rearing screening.

Description

technical field [0001] The invention relates to a new mutation-causing gene SLC12A3 of Gitelman syndrome, its encoded protein and its application, belonging to the field of medical molecular biology. Background technique [0002] Gitelman syndrome (Gitelman syndrome, GS, OMIM263800) is one of the causes of common hereditary hypokalemia, with a global incidence of about 25 / 1,000,000, and a higher incidence in Asian populations. Studies have found that the incidence in Japan Can reach 10.3 / 10000 [see A new familial disorder characterized by hypokalemia and hypomagnesemia[J].Trans Assoc AmPhysicians,1966,79:221-235. and Four novel mutations in the thiazide-sensitiveNa-Cl contransporter gene in Japanese patients with Gitle syndrome [J]. Nephrol Dial Transplant, 2004, 19(7): 1761-1766.]. The main clinical manifestations include hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalcemia and normotension. The disease is mainly caused by mutations in the SLC12A3 gene, which is...

Claims

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Application Information

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IPC IPC(8): C12N15/12C07K14/47C07K16/18C12Q1/68G01N33/68
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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