Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 493-496, 2008.
Article
in Chinese
| WPRIM
| ID: wpr-308032
ABSTRACT
<p><b>OBJECTIVE</b>To describe the clinical and genetic characteristics of a Chinese family with primary angle-closure glaucoma (PACG).</p><p><b>METHODS</b>Linkage analysis and DNA sequencing as well as single strand conformation polymorphism (SSCP) analysis were performed to identify the disease-causing mutations.</p><p><b>RESULTS</b>The Arg46Stop mutation in MYOC gene and Leu432Val in CYP1B1 gene were identified in all patients. The digenic alterations have not been identified in any same Chinese control individuals.</p><p><b>CONCLUSION</b>Author identified digenic mutations, Arg46Stop in MYOC gene and Leu432Val in CYP1B1 gene, in a Chinese PACG family. Author's studies suggest a possible role of MYOC and CYP1B1 in the development of PACG and support the hypothesis that PAOG and PACG may have common origin across multiple glaucoma phenotypes.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Phenotype
/
Polymorphism, Genetic
/
Aryl Hydrocarbon Hydroxylases
/
Base Sequence
/
Glycoproteins
/
Glaucoma, Angle-Closure
/
China
/
Cytoskeletal Proteins
/
Asian People
Type of study:
Prognostic study
Limits:
Aged
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2008
Type:
Article
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