Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 145-148, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-295519
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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Rhodopsin
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Eye Diseases, Hereditary
/
China
/
Night Blindness
/
Sequence Alignment
/
Amino Acid Sequence
/
Genetic Predisposition to Disease
/
Mutation, Missense
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Type:
Article
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