Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness].

Feng-yu Wang, Yan-li Wang, Yang Yang, Cong-min Li, Tao Zhang, Ming-xiu Chang, Yun-liang Zhu

Henan Research Institute of Population and Family Planning, Zhengzhou, Henan, People's Republic of China. rainbowwfy@yahoo.com.cn

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2012 Apr

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To detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province. Genomic DNA was extracted from peripheral blood samples of 14 family members. Based on 3 genes reported previously, PCR primers were designed and corresponding exons containing the mutation sites were amplified with PCR. PCR products were purified and directly sequenced. A c.281C>T heterozygous missense mutation was detected in RHO gene in all of the patients. This mutation can cause a change of the protein structure (p.Thr94Ile). The same mutation was not detected in normal individuals from the family and 50 normal controls. A c.281C>T mutation in RHO gene is responsible for the onset of ADCSNB in this Chinese family and results in symptoms of night blindness.

Citation

Feng-yu Wang, Yan-li Wang, Yang Yang, Cong-min Li, Tao Zhang, Ming-xiu Chang, Yun-liang Zhu. Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2012 Apr;29(2):145-8