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Войти в исследования Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2013
[Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome].
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Liu Yu-mei, Gao Xin-jing, Tian Xin, Li Xue-mei, Zhang Xi-bao
Аннотация
OBJECTIVE: To detect potential mutations of gap junction protein beta 2 (GJB2) and loricrin (LOR) genes in two patients with Vohwinkel syndrome.
METHODS: Polymerase chain reaction and DNA sequencing were used for detecting potential mutations in the GJB2 and LOR genes. Parents of one patient and 50 healthy individuals were used as controls.
RESULTS: A novel homozygous missense mutation (c.A796G) of LOR gene was detected in one patient. The same mutation was not found in the other patient, their relatives and the 50 healthy controls.
CONCLUSION: A missence mutation of LOR gene was detected in a patient with Vohwinkel syndrome.
METHODS: Polymerase chain reaction and DNA sequencing were used for detecting potential mutations in the GJB2 and LOR genes. Parents of one patient and 50 healthy individuals were used as controls.
RESULTS: A novel homozygous missense mutation (c.A796G) of LOR gene was detected in one patient. The same mutation was not found in the other patient, their relatives and the 50 healthy controls.
CONCLUSION: A missence mutation of LOR gene was detected in a patient with Vohwinkel syndrome.