Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness.
- Author:
Feng-yu WANG
1
;
Yan-li WANG
;
Yang YANG
;
Cong-min LI
;
Tao ZHANG
;
Ming-xiu CHANG
;
Yun-liang ZHU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Amino Acid Sequence; China; DNA Mutational Analysis; methods; Eye Diseases, Hereditary; Female; Genetic Diseases, X-Linked; Genetic Predisposition to Disease; Humans; Male; Molecular Sequence Data; Mutation, Missense; Myopia; genetics; Night Blindness; genetics; Rhodopsin; genetics; Sequence Alignment; methods
- From: Chinese Journal of Medical Genetics 2012;29(2):145-148
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province.
METHODSGenomic 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.
RESULTSA 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.
CONCLUSIONA 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.
