Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 224-227, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-335150
ABSTRACT
<p><b>OBJECTIVE</b>To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism.</p><p><b>METHODS</b>Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation.</p><p><b>CONCLUSION</b>A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Membrane Glycoproteins
/
Molecular Sequence Data
/
Base Sequence
/
Albinism, Ocular
/
Genetic Diseases, X-Linked
/
Asian People
/
Eye Proteins
/
Genetics
/
Mutation
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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