No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients
Autor: | Xiaoqiang Yao, Gary T. C. Ko, Chung-Mo Chow, Morris H. L. Tai, Nelson L.S. Tang, Rachel Kwok, Clive S. Cockram |
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Rok vydání: | 2004 |
Předmět: |
Adult
Male medicine.medical_specialty Potassium Channels Endocrinology Diabetes and Metabolism Taiwan Biology Paralyses Familial Periodic Endocrinology Internal medicine Genotype Paralysis medicine Humans Gene Genetic association Genetics Thyrotoxic periodic paralysis Periodic paralysis KCNE3 Middle Aged medicine.disease Potassium Channels Voltage-Gated Case-Control Studies Mutation Potassium medicine.symptom Restriction fragment length polymorphism Polymorphism Restriction Fragment Length |
Zdroj: | Clinical Endocrinology. 61:109-112 |
ISSN: | 1365-2265 0300-0664 |
Popis: | Summary objectives Mutation in KCNE3 gene (Isk-related family potassium voltage-gated channel member 3 gene) was recently associated with the aetiology of thyrotoxic periodic paralysis (TPP). We studied 79 Chinese TPP patients by DNA sequencing of the entire coding sequence of KCNE3 to determine if this gene is the cause of TPP in Chinese patients. design and measurements A case–control genetic association study was carried out to determine the role of mutation/polymorphism in KCNE3 gene in the pathogenesis of TPP. Genomic DNA was extracted from peripheral blood samples. DNA sequencing was performed to cover the coding region of the KCNE3 gene for the TPP subjects. Restriction fragment length polymorphism was used to genotype specific sequence variants. subjects Seventy-nine TPP patients (cases) and 111 male thyrotoxic patients without history of paralysis (controls) were identified from thyroid clinic and during acute admission in a teaching hospital. results No pathogenic mutation in KCNE3 was found in the TPP patients. The reported R83H mutation was also not found in the Chinese TPP patients. In addition, another silent polymorphism, 290T/C, was also not associated with TPP. conclusion The results indicate that mutation in KCNE3 is not a cause of TPP in Chinese patients. |
Databáze: | OpenAIRE |
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