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Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype
Authors:Alessia Cappelli  Stefano Tumini  Agostino Consoli  Silvia Carinci  Concettina Piersanti  Giuseppina Ruggiero  Graziano Simonella  Filippo Soletti  Paolo Staffolani  Luigi Pianese
Affiliation:1. U.O. Laboratorio Analisi Cliniche e Microbiologiche, Settore di Medicina Molecolare ASUR ZT13, Ascoli Piceno, Italy;2. Doctoral Course in Environmental Sciences and Public Health, School of Advanced Studies, Università degli Studi di Camerino, Italy;3. Dipartimento di Pediatria, Università di Chieti, Italy;4. Dipartimento di Medicina e Scienze dell’Invecchiamento, Università G. d’Annunzio, Chieti, Italy;5. Centro Studi sull’Invecchiamento, Ce.S.I., Fondazione Università G. d’Annunzio, Chieti, Italy;6. Servizio di Diabetologia, Ospedale Civile, Teramo, Italy;7. Dipartimento di Biologia e Patologia Cellulare e Molecolare, Università Federico II, Napoli, Italy;8. U. O. Diabetologia ed Endocrinologia, ASUR ZT13, Ascoli Piceno, Italy;1. Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil;2. Centro de Endocrinologia do Estado da Bahia (CEDEBA), Salvador, Brazil;3. Pediatric Endocrinology Unit, Santa Casa de Misericórdia, São Paulo, Brazil;4. Instituto da Criança, Hospital das Clínicas, University of São Paulo (USP), Brazil;1. Centre of Biotechnology, Siksha O Anusandhan University, Bhubaneswar, 751030, Odisha, India;2. Institute of Life Sciences, Nalco Square, Bhubaneswar, 751023, Odisha, India;3. Research and Development Centre, Hi-Tech Medical College and Hospital, Bhubaneswar, 751025 Odisha, India;1. Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, 5841 S. Maryland Ave., MC 1027, Chicago, IL 60637, USA;2. Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, IL, USA
Abstract:Analysis of GCK and HNF1A genes in 32 MODY families identified three novel mutations: the missense mutation G170D and the deletion/insertion P432Xfs in GCK and the splicing mutation IVS4nt-1G>T, in HNF1A. For IVS4nt-1G>T the sequence analysis of RT-PCR products demonstrated exon skipping with the use of a cryptic splicing site.
Keywords:
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