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
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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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