MODY screening: a new center for molecular genetic diagnosis in Brazil

نویسندگان

  • Lucas Santos de Santana
  • Lílian Araújo Caetano
  • Márcia Nery
  • Alexander Augusto de Lima Jorge
  • Milena Gurgel Teles Bezerra
چکیده

Background Maturity-Onset Diabetes of the Young (MODY) is a form of monogenic diabetes characterized by autosomal dominant inheritance, young age of onset and pancreatic betacell dysfunction without autoimmune cause. To date 13 genes have been identified associated with MODY phenotype, with four of them (HNF1A; GCK; HNF4A and HNF1B) being responsible for over 95% of cases. Recently, our group has initiated molecular genetic screening for MODY using Sanger's sequencing method.

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عنوان ژورنال:

دوره 7  شماره 

صفحات  -

تاریخ انتشار 2015