Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2017
[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].
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Zhao Qi, Guan Menglong, Wang Ling, Liao Yong, Li-Ling Jesse, Wan Huajing
Аннотация
OBJECTIVE: To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism.
METHODS: Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing.
RESULTS: A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation.
CONCLUSION: A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.
METHODS: Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing.
RESULTS: A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation.
CONCLUSION: A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.