Qi-chen Fang1, Rong Zhang, Cong-rong Wang, Xin Lin, Kun-san Xiang. 1. Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai No.6 People Hospital, Shanghai Jiaotong University, Shanghai, 200233 PR China.
Abstract
OBJECTIVE: To investigate the prevalence of mutations of hepatocyte nuclear factor (HNF)-1 alpha gene in Chinese families with early-onset and/or multiplex diabetes mellitus. METHODS: The studied population consisted of 247 unrelated Chinese residents in Shanghai, including 93 healthy controls and 154 probands of early-onset and/or multiplex diabetes pedigrees. The ten exons, flanking introns and minimal promoter region of HNF-1 alpha gene were screened using polymerase chain reaction-single strand conformation polymorphism and DNA sequencing. RESULTS: Fourteen substitutions were identified in 154 probands. Three variants were not observed in 93 healthy controls. Two of them (nt-128T-->G IVS2 nt+21G-->A) were not reported previously and all co-segregated with diabetes. The genotype and allele frequencies of the other eleven variants in the diabetic patients were not significantly different from those in the healthy controls. There were no significant relationships between the eleven variants of HNF-1 alpha gene and clinical variables (plasma glucose, insulin, C-peptide and fasting lipid profile). CONCLUSION: HNF-1 alpha gene is not a major cause of early-onset or multiplex diabetes pedigrees in this Chinese population in Shanghai.
OBJECTIVE: To investigate the prevalence of mutations of hepatocyte nuclear factor (HNF)-1 alpha gene in Chinese families with early-onset and/or multiplex diabetes mellitus. METHODS: The studied population consisted of 247 unrelated Chinese residents in Shanghai, including 93 healthy controls and 154 probands of early-onset and/or multiplex diabetes pedigrees. The ten exons, flanking introns and minimal promoter region of HNF-1 alpha gene were screened using polymerase chain reaction-single strand conformation polymorphism and DNA sequencing. RESULTS: Fourteen substitutions were identified in 154 probands. Three variants were not observed in 93 healthy controls. Two of them (nt-128T-->G IVS2 nt+21G-->A) were not reported previously and all co-segregated with diabetes. The genotype and allele frequencies of the other eleven variants in the diabeticpatients were not significantly different from those in the healthy controls. There were no significant relationships between the eleven variants of HNF-1 alpha gene and clinical variables (plasma glucose, insulin, C-peptide and fasting lipid profile). CONCLUSION:HNF-1 alpha gene is not a major cause of early-onset or multiplex diabetes pedigrees in this Chinese population in Shanghai.
Authors: Karol Estrada; Ingvild Aukrust; Lise Bjørkhaug; Noël P Burtt; Josep M Mercader; Humberto García-Ortiz; Alicia Huerta-Chagoya; Hortensia Moreno-Macías; Geoffrey Walford; Jason Flannick; Amy L Williams; María J Gómez-Vázquez; Juan C Fernandez-Lopez; Angélica Martínez-Hernández; Silvia Jiménez-Morales; Federico Centeno-Cruz; Elvia Mendoza-Caamal; Cristina Revilla-Monsalve; Sergio Islas-Andrade; Emilio J Córdova; Xavier Soberón; María E González-Villalpando; E Henderson; Lynne R Wilkens; Loic Le Marchand; Olimpia Arellano-Campos; Maria L Ordóñez-Sánchez; Maribel Rodríguez-Torres; Rosario Rodríguez-Guillén; Laura Riba; Laeya A Najmi; Suzanne B R Jacobs; Timothy Fennell; Stacey Gabriel; Pierre Fontanillas; Craig L Hanis; Donna M Lehman; Christopher P Jenkinson; Hanna E Abboud; Graeme I Bell; Maria L Cortes; Michael Boehnke; Clicerio González-Villalpando; Lorena Orozco; Christopher A Haiman; Teresa Tusié-Luna; Carlos A Aguilar-Salinas; David Altshuler; Pål R Njølstad; Jose C Florez; Daniel G MacArthur Journal: JAMA Date: 2014-06-11 Impact factor: 56.272