Scanning the HNF4A gene mutation from Chinese pedigrees with early- and/or multiple-onset diabetes / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To screen the mutation of hepatocyte nuclear factor 4 alpha gene (HNF4A) in Chinese pedigrees with early and/or multiplex-onset diabetes in Shanghai and nearby area.</p><p><b>METHODS</b>By PCR-single strand conformation polymorphism (PCR-SSCP) and direct sequencing, the mutation screen of HNF4A gene was performed in 93 normal controls and 154 unrelated probands from early- and/or multiplex-onset diabetes. The PCR-RFLP was used to analyze the frequencies of the discovered mutations and variants.</p><p><b>RESULTS</b>Two synonymous mutations (N153N, A158A) were found in two families, of which the N153N was co-segregated with early-onset diabetes. These two synonymous mutations were not detected in the 93 normal controls. Three variants, IVS1+308(A to G)(rs2071197), IVS1+357(A to T)(rs2071198), IVS1-5(C to T)(rs745975), were also identified in this study. The genotype and allele frequencies of the three variants had no difference between the probands and normal controls.</p><p><b>CONCLUSION</b>HNF4A gene mutation is rare in Chinese pedigrees with early and/or multiplex-onset diabetes.</p>