Improving the identification of mody mutations by using mlpa technique in the molecular diagnostics routine

نویسندگان

  • Renata Pires Dotto
  • Andreia Latanza Gomes Mathez
  • Luciana Ferreira Franco
  • João Roberto de Sá
  • Leticia Schwerz Weinert
  • Sandra Pinho Silveiro
  • Fernando de Mello Almada Giuffrida
  • Magnus Regios Dias da Silva
  • André Fernandes Reis
چکیده

Background Maturity-onset diabetes of the young (MODY) represents about 3-5% of cases of diabetes mellitus (DM). Searching for mutations can be performed either by Sanger sequencing or Multiplex Ligation-dependent Probe Amplification (MLPA) technique. MLPA is a powerful molecular tool that identifies large genetic rearrangements such as deletions and insertions, even though these kinds of mutations seem to be rare in the majority of MODY subtypes.

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عنوان ژورنال:

دوره 7  شماره 

صفحات  -

تاریخ انتشار 2015