Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>