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A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.


ABSTRACT: PURPOSE: To identify the molecular defect in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene in a four-generation Chinese family with Schnyder corneal dystrophy (SCD). METHODS: A four-generation Chinese family with SCD and 50 unrelated normal individuals as controls were enrolled in. The complete ophthalmic examination was performed and blood samples were taken for subsequent genetic analysis. Mutation screening of UBIAD1 was performed by polymerase chain reaction (PCR) based DNA sequencing. RESULTS: The missense mutation N102S in UBIAD1 was identified in this pedigree from the mainland of China for the first time. The molecular defect cosegregates with the affected individuals, whereas not found in unaffected family members or normal controls. CONCLUSIONS: The nonsynonymous mutation, N102S, in UBIAD1 detected in this family confirms that it is a mutation hot spot not only in Caucasian but also in Chinese. This finding adds support to the proposal that N102S has been independently mutated and argues against the likelihood of a founder effect.

SUBMITTER: Du C 

PROVIDER: S-EPMC3209473 | BioStudies | 2011-01-01

REPOSITORIES: biostudies

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