Zhonghua yi xue yi chuan xue za zhi, 2008-10, Vol.25 (5), p.493
2008
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Details
- Autor(en) / Beteiligte
- Titel
- Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma
- Ist Teil von
- Zhonghua yi xue yi chuan xue za zhi, 2008-10, Vol.25 (5), p.493
- Ort / Verlag
- China
- Erscheinungsjahr
- 2008
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- To describe the clinical and genetic characteristics of a Chinese family with primary angle-closure glaucoma (PACG). Linkage analysis and DNA sequencing as well as single strand conformation polymorphism (SSCP) analysis were performed to identify the disease-causing mutations. 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. 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.
- Sprache
- Chinesisch
- Identifikatoren
- ISSN: 1003-9406Titel-ID: cdi_pubmed_primary_18841557
- Format
- –
- Schlagworte
- Aged, Alleles, Aryl Hydrocarbon Hydroxylases - genetics, Asian Continental Ancestry Group - genetics, Base Sequence, China, Cytochrome P-450 CYP1B1, Cytoskeletal Proteins - genetics, Eye Proteins - genetics, Female, Genotype, Glaucoma, Angle-Closure - genetics, Glycoproteins - genetics, Humans, Mutation, Pedigree, Phenotype, Polymorphism, Genetic