Novel mutations in the GRK1 gene in Japanese patients with oguchi disease
Novel mutations in the GRK1 gene in Japanese patients with oguchi disease
复制标题
DOI：
10.1016/j.ajo.2007.03.025
复制
发表时间：
2007-09-01
影响因子：
4.2
通讯作者：
Yoshimura, Nagahisa
中科院分区：
文献类型：
--
作者：
Oishi, Akio;Akimoto, Masayuki;Yoshimura, Nagahisa
目得：报告日本Oguchi病患者GRK 1基因的新突变。设计：观察性病例报告。方法：对两名不相关的日本Oguchi病患者进行研究。结果：在SAG基因中未发现突变，但在GRK 1基因中发现了两个新的纯合突变，分别为c.1079delT和c.1079delT。1408-1412 CCCCC到CCC，被识别。这两种突变都可能产生GRK 1的无效等位基因。结论：作者在日本患者中发现了两种不同的新突变。结果表明，相当数量的GRK 1突变存在于日本人口。
PURPOSE: To report novel mutations in the GRK1 gene in Japanese patients with Oguchi disease.DESIGN: Observational case report.METHODS: Two unrelated Japanese patients with Oguchi disease were examined. After informed consent was obtained, the coding regions of SAG and GRK1 were analyzed by direct sequencing.RESULTS: Although no mutation was found in SAG, two novel homozygous mutations in GRK1, c.1079 del T and c. 1408-1412 CCCCC to CCC, were identified. Both mutations are expected to generate null alleles of GRK1.CONCLUSIONS: The authors found two different novel mutations in Japanese patients. The results indicate that a considerable number of GRK1 mutations exist in the Japanese population.