AIMS/HYPOTHESIS: Maturity-onset @entity6 is an autosomal dominant form of @entity6 characterised by an early age of onset (usually <25 years). We investigated the prevalence and trans-activating activity of @entity5448 mutations in southern Chinese families with @entity2175 . METHODS: We screened for mutations in the @entity5448 gene in 50 unrelated southern Chinese families, which fulfilled the minimum criteria for @entity2175 . Functional properties of the mutant proteins were investigated using site-directed mutagenesis and luciferase reporter assay. RESULTS: Five of the 50 (10%) families were found to have mutations in the coding region, including a new nonsense mutation @entity68969 and four reported mutations (frameshift mutation P379fsdelCT, nonsense mutation @entity62305 , missense mutations @entity34297 and @entity56719 ). These mutations had decreased trans-activating activity on the @entity1 insulin gene promoter. We also detected a new intronic sequence variation IVS7nt @entity29109 , which co-segregated with @entity6 . The intronic variation creates a potential splice acceptor site and might alter the splicing of the @entity5448 mRNA. CONCLUSION/INTERPRETATION: Mutations in the @entity5448 gene seem to be an important cause of @entity2175 in southern Chinese. The mutations could affect normal islet function by altering the expression of target genes.

Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese XXXX families: prevalence and functional analysis.

@entity2175 :: ('MESH:D003924', 'Disease') :: ['MODY'] @entity1 :: ('9606', 'Species') :: ['human'] @entity68969 :: ('p|SUB|Q|176|X', 'ProteinMutation') :: ['Q176X'] @entity34297 :: ('p|SUB|G|20|R', 'ProteinMutation') :: ['G20R'] @entity29109 :: ('c|SUB|G|-6|A', 'DNAMutation') :: ['-6 G-->A'] @entity6 :: ('MESH:D003920', 'Disease') :: ['diabetes of the young', 'diabetes'] @entity62305 :: ('p|SUB|R|171|X', 'ProteinMutation') :: ['R171X'] @entity5448 :: ('6927', 'Gene') :: ['HNF-1 alpha', 'hepatocyte nuclear factor (HNF) -1 alpha'] @entity56719 :: ('p|SUB|P|112|L', 'ProteinMutation') :: ['P112L']
@entity2175 :: (MESH:D003924,Disease) :: ['MODY']
